Publications

Improved prediction of breast cancer risk based on phenotypic DNA damage repair capacity in peripheral blood B cells

Authors: Okunola HL, Shuryak I, Repin M, et al.

Citation:Res Sq. 2023. Epub 20230627. doi: 10.21203/rs.3.rs-3093360/v1.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/37461559/ (will open in a new window)

PMCID:PMC10350237

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Authors: O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, et al.

Citation:Br J Cancer. 2023;128(12):2283-94. Epub 20230419. doi: 10.1038/s41416-023-02263-5.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/37076566/ (will open in a new window)

PMCID:PMC10241792

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Authors: Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, et al.

Citation:Genome Med. 2023;15(1):7. Epub 20230126. doi: 10.1186/s13073-022-01152-5.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36703164/ (will open in a new window)

PMCID:PMC9878779

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Authors: Morra A, Schreurs MAC, Andrulis IL, Anton-Culver H, Augustinsson A, Beckmann MW, et al.

Citation:Res Sq. 2023. Epub 20230213. doi: 10.21203/rs.3.rs-2569372/v1.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36824750/ (will open in a new window)

PMCID:PMC9949248

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

Authors: Lopes Cardozo JMN, Andrulis IL, Bojesen SE, Dörk T, Eccles DM, Fasching PA, et al.

Citation:J Clin Oncol. 2023;41(10):1849-63. Epub 20230123. doi: 10.1200/jco.22.01978.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36689693/ (will open in a new window)

PMCID:PMC10082287

RE: Heterozygous BRCA1 and BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer.

Authors: Li S, Nguyen-Dumont T, Southey MC, Hopper JL.

Citation:J Natl Cancer Inst. 2023;115(6):757-9. doi: 10.1093/jnci/djad056.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/37004193/ (will open in a new window)

PMCID:PMC10248828

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Authors: Kast K, John EM, Hopper JL, Andrieu N, Noguès C, Mouret-Fourme E, et al.

Citation:Breast Cancer Res. 2023;25(1):72. Epub 20230620. doi: 10.1186/s13058-023-01673-w

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/37340476/ (will open in a new window)

PMCID:PMC10280955

Changes in Breast Cancer Risk and Risk Factor Profiles among U.S.-Born and Immigrant Asian American Women Residing in the San Francisco Bay Area

Authors: John EM, Koo J, Ingles SA, Kurian AW, Hines LM.

Citation:Cancer Epidemiol Biomarkers Prev. 2023;32(5):666-77. doi: 10.1158/1055-9965.Epi-22-1128.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36780232/ (will open in a new window)

PMCID:PMC10411517

Diet Quality and All-Cause Mortality in Women with Breast Cancer from the Breast Cancer Family Registry

Authors: Haslam DE, John EM, Knight JA, Li Z, Buys SS, Andrulis IL, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2023;32(5):678-86. doi: 10.1158/1055-9965.Epi-22-1198.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36857773/ (will open in a new window)

PMCID:PMC10066732

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing

Authors: E. V. Demidova, I. G. Serebriiskii, R. Vlasenkova, S. Kelow, M. D. Andrake, T. R. Hartman, et al.

Citation:BMC Genomics. 2023;24(1):212. Epub 20230424. doi: 10.1186/s12864-023-09310-8.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/37095444/ (will open in a new window)

PMCID:PMC10123997

High-throughput measurement of double strand break global repair phenotype in peripheral blood mononuclear cells after long-term cryopreservation

Authors: B. Bacon, M. Repin, I. Shuryak, H. C. Wu, R. M. Santella, M. B. Terry, et al.

Citation:Cytometry A. 2023;103(7):575-83. Epub 20230329. doi: 10.1002/cyto.a.24725.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/36823754/ (will open in a new window)

Oral Contraceptive Use in BRCA1 and BRCA2 Mutation Carriers: Absolute Cancer Risks and Benefits

Authors: Schrijver LH, Mooij TM, Pijpe A, et al.

Citation: J Natl Cancer Inst. 2022 Apr 11; 114(4):540-552

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35048954/ (will open in a new window)

PMCID: PMC9002279

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Authors: Mavaddat N, Dorling L, Carvalho S, et al.

Citation: JAMA Oncol. 2022 Mar 1; 8(3):e216744

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35084436/ (will open in a new window)

PMCID:PMC8796069

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis

Authors: Lowry KP, Geuzinge HA, Stout NK, et al.

Citation: JAMA Oncol. 2022 Feb 17; e216204

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35175286/ (will open in a new window)

PMCID: PMC8855312

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Authors: Li S, Silvestri V, Leslie G, et al.

Citation: J Clin Oncol. 2022 Jan 25; JCO2102112. doi: 10.1200/JCO.21.02112. Online ahead of print

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35077220/ (will open in a new window)

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Authors: Li H, Engel C, de la Hoya M, et al.

Citation: Genet Med. 2022 Jan; 24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34906479/ (will open in a new window)

Rare germline copy number variants (CNVs) and breast cancer risk

Authors: Dennis J, Tyrer JP, Walker LC, et al.

Citation: Commun Biol. 2022 Jan 18; 5(1):65. doi: 10.1038/s42003-021-02990-6

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35042965/ (will open in a new window)

PMCID: PMC8766486

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Authors: Dareng EO, Tyrer JP, Barnes DR, et al.

Citation: Eur J Hum Genet. 2022 Mar; 30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/35027648/ (will open in a new window)

PMCID: PMC8904525

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Authors: Barnes DR, Silvestri V, Leslie G, et al.

Citation: J Natl Cancer Inst. 2022 Jan 11; 114(1):109-122. doi: 10.1093/jnci/djab147

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34320204/ (will open in a new window)

PMCID: PMC8755508

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Authors: Ahearn TU, Zhang H, Michailidou K, et al.

Citation: Breast Cancer Res. 2022 Jan 4; 24(1):2. doi: 10.1186/s13058-021-01484-x

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34983606/ (will open in a new window)

PMCID: PMC8725568

Polygenic risk scores for prediction of breast cancer risk in Asian populations

Authors: Ho WK, Tai MC, Dennis J, et al.

Citation: Genet Med. 2022 Mar; 24(3):586-600. doi: 10.1016/j.gim.2021.11.008. Epub 2021 Dec 15.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34906514/ (will open in a new window)

PMCID: PMC7612481

Cumulative menstrual months and breast cancer risk by hormone receptor status and ethnicity: The Breast Cancer Etiology in Minorities Study

Authors: Cole SE, John EM, Hines LM, et al.

Citation: Int J Cancer. 2022 Jan 15; 150(2):208-220. doi: 10.1002/ijc.33791. Epub 2021 Sep 16.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34469597/ (will open in a new window)

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Authors: Barnes DR, Silvestri V, Leslie G, et al.

Citation: J Natl Cancer Inst. 2022 Jan 11; 114(1):109-122. doi: 10.1093/jnci/djab147.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34320204/ (will open in a new window)

PMCID: PMC8755508

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Authors: Coignard J, Lush M, Beesley J, et al.

Citation:Nat Commun . 2021 Feb 17; 12(1):1078

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33597508/ (will open in a new window)

Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women

Authors: Breast Cancer Association Consortium; Dorling L, Carvalho S, Allen J, et al.

Citation:N Engl J Med . 2021 Feb 4; 384(5):428-439

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33471991/ (will open in a new window)

PMCID:

The Steroid Metabolome and Breast Cancer Risk in Women with a Family History of Breast Cancer: The Novel Role of Adrenal Androgens and Glucocorticoids

Authors: Houghton LC, Howland RE, Wei Y, et al.

Citation: Cancer Epidemiol Biomarkers Prev . 2021 Jan; 30(1):89-96

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32998947/ (will open in a new window)

PMCID: PMC7855281

A Population-Based Study of Genes Previously Implicated in Breast Cancer

Authors: Hu C, Hart SN, Gnanaolivu R, et al.

Citation: N Engl J Med . 2021 Feb 4; 384(5):440-451

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33471974/ (will open in a new window)

Racial/Ethnic Disparities in Survival after Breast Cancer Diagnosis by Estrogen and Progesterone Receptor Status: A Pooled Analysis

Authors: John EM, McGuire V, Kurian AW, et al.

Citation: Cancer Epidemiol Biomarkers Prev. 2021 Feb; 30(2):351-363

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33355191/ (will open in a new window)

PMCID: PMC7867638

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Authors: Johnson N, Maguire S, Morra A, et al.

Citation: Br J Cancer. 2021 Feb; 124(4):842-854

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33495599/ (will open in a new window)

Weight is more informative than body mass index for predicting post-menopausal breast cancer risk: Prospective Family Study Cohort (ProF-SC)

Authors: Ye Z, Li S, Dite GS, et al.

Citation: Cancer Prev Res (Phila). 2021 Dec 28; canprevres. CAPR-21-0164-A.2021. doi: 10.1158/1940-6207.CAPR-21-0164. Online ahead of print.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34965921/ (will open in a new window)

PMCID: 34965921

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast

Authors: Yadav S, Hu C, Nathanson KL, et al.

Citation: J Clin Oncol. 2021 Dec 10; 39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34672684/ (will open in a new window)

PMCID: https://pubmed.ncbi.nlm.nih.gov/34672684/

Genetic insights into biological mechanisms governing human ovarian ageing

Authors: Ruth KS, Day FR, Hussain J, et al.

Citation: Nature. 2021 Aug; 596(7872):393-397. doi: 10.1038/s41586-021-03779-7. Epub 2021 Aug 4.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34349265/ (will open in a new window)

PMCID: PMC7611832

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Authors: Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, et al.

Citation: Hum Mutat. 2021 Nov; 42(11):1488-1502. doi: 10.1002/humu.24276. Epub 2021 Aug 31

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34420246/ (will open in a new window)

Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Authors: Park J, Choi JY, Choi J, et al.

Citation: Cancers (Basel). 2021 May 14; 13(10):2370. doi: 10.3390/cancers13102370.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34069208/ (will open in a new window)

PMCID: PMC8156547

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Authors: Park HA, Neumeyer S, Michailidou K, et al.

Citation: Br J Cancer. 2021 Oct; 125(8):1135-1145. doi: 10.1038/s41416-021-01432-8. Epub 2021 Aug 2.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34341517/ (will open in a new window)

PMCID: PMC8505411

Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

Authors: Nguyen-Dumont T, Dowty JG, Steen JA, et al.

Citation: Cancers (Basel). 2021 Mar 18; 13(6):1378. doi: 10.3390/cancers13061378.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33803639/ (will open in a new window)

PMCID: PMC8003064

Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure

Authors: Nguyen TL, Schmidt DF, Makalic E, et al.

Citation: Int J Cancer. 2021 May 1; 148(9):2193-2202. doi: 10.1002/ijc.33396. Epub 2020 Dec 4.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33197272/ (will open in a new window)

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

Authors: Morra A, Jung AY, Behrens S, et al.

Citation: Cancer Epidemiol Biomarkers Prev. 2021 Apr; 30(4):623-642. doi: 10.1158/1055-9965.EPI-20-0924. Epub 2021 Jan 26.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33500318/ (will open in a new window)

PMCID: PMC8026532

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Authors: Morra A, Escala-Garcia M, Beesley J, et al.

Citation: Breast Cancer Res. 2021 Aug 18; 23(1):86. doi: 10.1186/s13058-021-01450-7.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34407845/ (will open in a new window)

PMCID: PMC8371820

Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort

Authors: MacInnis RJ, Knight JA, Chung WK, et al.

Citation:J Natl Cancer Inst. 2021 Jun 1; 113(6):785-791. doi: 10.1093/jnci/djaa178.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33301022/ (will open in a new window)

PMCID: PMC8168075

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Authors: Li N, Zethoven M, McInerny S, et al.

Citation: NPJ Breast Cancer. 2021 May 12; 7(1):52. doi: 10.1038/s41523-021-00255-3.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33980861/ (will open in a new window)

PMCID: PMC8115524

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Authors: Lakeman IMM, van den Broek AJ, Vos JAM, et al.

Citation: Genet Med. 2021 Sep; 23(9):1726-1737. doi: 10.1038/s41436-021-01198-7. Epub 2021 Jun 10.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34113011/ (will open in a new window)

PMCID: PMC8460445

Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk

Authors: Kehm RD, MacInnis RJ, John EM, et al.

Citation: JNCI Cancer Spectr. 2021 Dec 8; 5(6):pkab090. doi: 10.1093/jncics/pkab090. eCollection 2021 Dec.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34950851/ (will open in a new window)

PMCID: PMC8692829

Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

Authors: Kapoor PM, Mavaddat N, Choudhury PP, et al.

Citation: J Natl Cancer Inst. 2021 Mar 1; 113(3):329-337. doi: 10.1093/jnci/djaa056.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32359158/ (will open in a new window)

PMCID: PMC7936056

Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

Authors: Graff M, Justice AE, Young KL, et al.

Citation: Am J Hum Genet. 2021 Apr 1; 108(4):564-582. doi: 10.1016/j.ajhg.2021.02.011. Epub 2021 Mar 12.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33713608/ (will open in a new window)

PMCID: PMC8059339

Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score

Authors: Gao C, Polley EC, Hart SN, et al.

Citation: J Clin Oncol. 2021 Aug 10; 39(23):2564-2573. doi: 10.1200/JCO.20.01992. Epub 2021 Jun 8.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34101481/ (will open in a new window)

PMCID: PMC8330969

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Authors: Escala-Garcia M, Canisius S, Keeman R, et al.

Citation: Sci Rep. 2021 Oct 5; 11(1):19787. doi: 10.1038/s41598-021-99409-3.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34611289/ (will open in a new window)

PMCID: PMC8492709

VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association

Authors: Dugue PA, Yu C, McKay T, et al.

Citation: Int J Mol Sci. 2021 Mar 3; 22(5):2535. doi: 10.3390/ijms22052535.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33802562/ (will open in a new window)

PMCID: PMC7961504

Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry

Authors: Du Z, Gao G, Adedokun B, et al.

Citation: J Natl Cancer Inst. 2021 Sep 4; 113(9):1168-1176. doi: 10.1093/jnci/djab050.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33769540/ (will open in a new window)

PMCID: PMC8418423

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Authors: Coignard J, Lush M, Beesley J, et al.

Citation: Nat Commun. 2021 Feb 17; 12(1):1078. doi: 10.1038/s41467-020-20496-3.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33597508/ (will open in a new window)

PMCID: PMC7890067

Association of Risk-Reducing Salpingo-Oophorectomy With Breast Cancer Risk in Women With BRCA1 and BRCA2 Pathogenic Variants

Authors: Choi YH, Terry MB, Daly MB, et al.

Citation: JAMA Oncol. 2021 Apr 1; 7(4):585-592. doi: 10.1001/jamaoncol.2020.7995.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/33630024/ (will open in a new window)

PMCID: PMC7907985

A competing risks model with binary time varying covariates for estimation of breast cancer risks in BRCA1 families

Authors: Choi YH, Jung H, Buys S, et al.

Citation: Stat Methods Med Res. 2021 Sep; 30(9):2165-2183. doi: 10.1177/09622802211008945. Epub 2021 Jul 7.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34232831/ (will open in a new window)

PMCID: PMC8424615

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Authors: Brooks JD, Nabi HH, Andrulis IL, et al.

Citation: J Pers Med. 2021 Jun 4; 11(6):511. doi: 10.3390/jpm11060511.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34199804/ (will open in a new window)

PMCID: PMC8226444

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Authors: Baxter JS, Johnson N, Tomczyk K, et al.

Citation: Am J Hum Genet. 2021 Jul 1; 108(7):1190-1203. doi: 10.1016/j.ajhg.2021.05.013. Epub 2021 Jun 18.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34146516/ (will open in a new window)

PMCID: PMC8322933

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Authors: Adedokun B, Du Z, Gao G, et al.

Citation: Nat Commun. 2021 Jul 7; 12(1):4198. doi: 10.1038/s41467-021-24327-x.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/34234117/ (will open in a new window)

PMCID: PMC8263739

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Authors: Escala-Garcia M, Abraham J, Andrulis I, et al.

Citation:Nat Commun. 2020 Jan 16; 11(1):312.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/31949161 (will open in a new window)

PMCID:PMC6965101

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Authors: Fachal L, Aschard H, Beesley J, et al.

Citation:Nat Genet. 2020 Jan; 52(1):56-73.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/31911677 (will open in a new window)

PMCID:PMC6974400

Menstrual and reproductive characteristics and breast cancer risk by hormone receptor status and ethnicity: The Breast Cancer Etiology in Minorities study

Authors: John EM, Phipps AI, Hines LM, et al.

Citation: Int J Cancer. 2020 Feb 16. [Epub ahead of print]

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/32064598 (will open in a new window)

Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk

Authors: Kehm RD, Genkinger JM, MacInnis RJ, et al.

Citation: Cancer Res. 2020 Jan 1; 80(1):116-125

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/31578201/ (will open in a new window)

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Authors: Li H, Terry MB, Antoniou AC, et al.

Citation: Cancer Epidemiol Biomarkers Prev. 2020 Feb; 29(2):368-378.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/31792088/ (will open in a new window)

Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results

Authors: MacInnis RJ, Liao Y, Knight JA, et al.

Citation: J Natl Cancer Inst. 2020 Apr 1; 112(4):418-422.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/31584660/ (will open in a new window)

PMCID: PMC7156937

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Authors: Mavaddat N, Antoniou AC, Mooij TM, et al.

Citation: Breast Cancer Res. 2020 Jan 16; 22(1):8.

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/31948486/ (will open in a new window)

PMCID: PMC6966793

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Authors: Zhang H, Ahearn TU, Lecarpentier J, et al.

Citation:Nat Genet. 2020; 52(6):572-81

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32424353/ (will open in a new window)

PMCID: PMC7808397

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Authors: Barnes DR, Rookus MA, McGuffog L, et al.

Citation:Genet Med . 2020 Oct; 22(10):1653-1666

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32665703/ (will open in a new window)

PMCID: PMC7521995

Navigating the Intersection between Genomic Research and Clinical Practice

Authors: Daly MB

Citation:Cancer Prev Res (Phila) . 2020 Mar; 13(3):219-222

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32132115/ (will open in a new window)

PMCID: PMC7080295

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Authors: Feng H, Gusev A, Pasaniuc B, et al.

Citation:Genet Epidemiol . 2020 Jul; 44(5):442-468

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/32115800/ (will open in a new window)

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Authors: Figlioli G, Kvist A, Tham E, et al.

Citation: Cancers. 2020 Jan 26; 12(2):292

PubMed Link: https://pubmed.ncbi.nlm.nih.gov/31991861/ (will open in a new window)

PMCID: PMC7073216

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

Authors: Giardiello D, Hauptmann M, Steyerberg EW, et al.

Citation: Breast Cancer Res Treat . 2020 Jun; 181(2):423-434

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Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

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The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History

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Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

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Citation:Genet Med. 2017 Jan;19(1):30-35. Epub 2016 May 12.

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RAD51B in Familial Breast Cancer

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ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

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Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

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Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer

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Citation:J Genet Couns. 2016; 25: 258–269

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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

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Fine-scale mapping at 9p22.2 identifies candidate causal variants that modify ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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Citation:PLoS One. 2016 Jul;11(7): e0158801.

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An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.

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Citation:Hum Mol Genet. 2016 Sep 1;25(17):3863-3876.

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Genome-wide Meta-analyses of Breast, Ovarian and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by At Least Two Cancer Types.

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Citation:Cancer Discov. 2016 Sep;6(9):1052-67.

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Genetically predicted body mass index and breast cancer risk: Mendelian randomization analyses of data from 145,000 women of European descent.

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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.

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A meta-analysis of multiple myeloma risk regions in African and European ancestry populations identifies putatively functional loci.

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Citation:Cancer Epidemiol Biomarkers Prev. 2016 Dec;25(12):1609-1618. Epub 2016 Sep 1.

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PMCID:PMC5524541

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.

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Genome-wide association studies in women of African Ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer.

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Citation:Hum Mol Genet. 2016 Nov 1;25(21):4835-4846.

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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

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Admixture mapping of African-American women in the AMBER consortium identifies new loci for breast cancer and estrogen-receptor subtypes.

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PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/27708667 (will open in a new window)

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Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour.

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PMCID:PMC5021583

Association of Breast Cancer Risk with Genetic Variants Showing Differential Allelic Expression: Identification of a Novel Breast Cancer Susceptibility Locus at 4q21.

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Letter to the Editor: The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

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Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry.

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Mismatch repair polymorphisms as markers of breast cancer prevalence in the breast cancer family registry

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DNA repair gene expression levels as indicators of breast cancer in the Breast Cancer Family Registry

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Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters.

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Citation:Am J Epidemiol 2015 Feb 1;181(3):204-12

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The impact of cancer prevention guideline adherence on overall mortality in a high-risk cohort of women from the New York site of the Breast Cancer Family Registry.

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Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

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Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

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Citation:Breast Cancer Res Treat 2015 Jan;149(2):547-54

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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

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Citation:Cancer Epidemiol Biomarkers Prev. 2015 Jan;24:308-316.

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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

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Citation:Hum Genet. 2015 Feb;134(2):231-45.

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Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.

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Citation:Carcinogenesis 2015 Feb; 36(2):256-71.

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Authors: Kuchenbaecker KB, Ramus SJ, Tyrer J, et al.

Citation:Nat Genet 2015 Feb;47(2):164-71.

PubMed Link: http://www.ncbi.nlm.nih.gov/pubmed/?term=PMC4445140 (will open in a new window)

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Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy.

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Citation:Breast Cancer Res. 2015 Feb;17:18.

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Hi-Plex targeted sequencing is effective using DNA derived from archival ried blood spots.

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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

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Citation:PLoS One 2015 April;10(4):e)120020.

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An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

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Citation:Breast Cancer Res 2015 Apr;17(1):61.

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The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients.

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Identification of novel genetic markers of breast cancer survival.

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Common germline polymorphisms associated with breast cancer specific survival.

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

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Citation:JAMA 2015 Apr;2313(13):1347-1361.

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Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk.

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Practical problems with clinical guidelines for breast cancer prevention based on remaining lifetime risk.

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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

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Citation:Gynecol Oncol 2015 May 2.

PubMed Link: http://www.ncbi.nlm.nih.gov/pubmed/25940428 (will open in a new window)

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Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

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Two susceptibility loci identified for prostate cancer aggressiveness.

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Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.

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Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures.

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Assessing absolute changes in breast cancer risk due to modifiable risk factors.

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BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate and ovarian cancers

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Citation:J Natl Cancer Inst. 2015 Nov 19;108(2). pii: djv315. doi: 10.1093/jnci/djv315. Print 2016 Feb.

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Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults

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Citation:Breast Cancer Research. doi. 10.1186/s13058-016-0675-7

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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

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SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

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Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study

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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

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Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

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microRNA expression in prospectively collected blood as a potential biomarker of breast cancer risk in the BCFR

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Psychosocial adjustment in school-age girls with a family history of breast cancer

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Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.

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Interpretation of genomic variation and disease association – the great missense mutation challenge!

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A Genome-wide Association Study of Early-Onset Breast Cancer PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age.

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Differences in DNA Methylation by Extent of Breast Cancer Family History in Unaffected Women.

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Oral Contraceptive and Reproductive Risk Factors for Ovarian Cancer Within Sisters in the Breast Cancer Family Registry.

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Impact of Neighborhood and Individual Socioeconomic Status on Survival After Breast Cancer Varies by Race/Ethnicity: the Neighborhood and Breast Cancer Study.

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Citation:Cancer Epidemiol Biomarkers Prev. 2014 May;23(5):793-811. Epub 2014 Mar 11

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Reproductive Risk Factors and Estrogen and Progesterone Receptor Negative Breast Cancer in the Breast Cancer Family Registry

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Citation:Br J Cancer. 2014 Mar 4;110(5):1367-77. Epub 2014 Feb 18

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Impact of familial risk and mammography screening on prognostic indicators of breast disease among women from the Ontario site of the Breast Cancer Family Registry.

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Citation:Fam Cancer 2014 Jun; 13(2) 163-72. doi: 10.1007/s10689-013-9689-9

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Does perceived risk predict breast cancer screening use? Findings from a prospective cohort study of female relatives from the Ontario site of the Breast Cancer Family Registry.

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Citation:Genet Epidemiol 2014 Jan; 38:84-93

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Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

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Citation:PLoS Genet 2014 April 17;10(4):e1004285. doi: 10.1371/journal.pgen.1004285

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PMCID:PMC3990493

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

Authors: Purrington KS, Slettedahl S, Bolla MK, et al.

Citation:Human Mol Genet 2014 June 13

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Mammographic density phenotypes and risk of breast cancer: a meta-analysis.

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Citation:J Natl Cancer Inst. 2014 May 10;106(5). pii: dju078. doi: 10.1093/jnci/dju078

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Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers.

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Citation:Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290

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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

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Citation:Hum Mol Genet 2014 May; 23(9):2490-2497

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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

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Citation:PLoS Genetics 2014 Apr 3;10(4):e1004256

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Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

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2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.

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Citation:Nature Communications 2014 June 17; 5:4501

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Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

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Citation:Breast Cancer Res 2014 May 26;16(3):R51

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/24887515 (will open in a new window)

Human Subjects Protection: An Event Monitoring Committee for Research Studies of Girls From Breast Cancer Families.

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Citation:J Adolesc Health 2014 May 17. pii: S1054-139X(14)00145-1. doi: 10.1016/j.jadohealth.2014.03.007

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Assessing the goodness of fit of personal risk models.

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Citation:Stat Med 2014 April 22. doi: 10.1002/sim.6176

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A Comprehensive examination of breast cancer risk loci in African American women.

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Citation:Human Molecular Genet 2014 May 22

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

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Citation:Breast Cancer Res 2014 Jun;16(3):R58

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Meta-analysis of loci associated with age at natural menopause in African-American women.

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Citation:Human Molecular Genetics 2014 June 15; 23(12):3327-42

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A genome-wide “pleiotropy scan” does not identify new susceptibility loci for estrogen receptor negative breast cancer.

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Citation:PLoS One 2014 Feb 11;9(2):e85955

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Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study.

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Citation: Eur Urol 2014 Jan 15. pii: S0302-2838(14)00004-9

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Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases.

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Citation:Cancer Epidemiol Biomarkers Prev 2014 June; 23(6):934-45

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Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

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Citation:Breast Cancer Res. 2014 Dec 23;16(6):3419

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Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

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Citation:Breast Cancer Res 2014 Dec;16(6):3416.

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MicroRNA related polymorphisms and breast cancer risk.

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Neighborhood influences on recreational physical activity and survival after breast cancer.

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Citation:Cancer Causes Control 2014 Oct;25(10):1295-308

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Human Subjects Protection: An Event Monitoring Committee for Research Studies of Girls from Breast Cancer Families.

Authors: Harris D, Patrick-Miller L, Schwartz L, et al.

Citation:J Adolesc Health 2014 Sep;55(3):352-7

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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

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Citation:Nat Commun 2014 Sep;4:4999

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A comprehensive examination of breast cancer risk loci in African American women.

Authors: Feng Y, Stram DO, Rhie SK, et al.

Citation:Human Molecular Genet 2014 Oct;23(20):5518-26.

PubMed Link: http://www.ncbi.nlm.nih.gov/pubmed/?term=PMC4168823 (will open in a new window)

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Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.

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Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.

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Genome-wide scan of 29,141 African Americans finds no evidence of directional selection since admixture.

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Associations of Common Breast Cancer Susceptibility Alleles with Risk of Breast Cancer Subtypes in BRCA1 and BRCA2 Mutation Carriers

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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.

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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

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A genome-wide association study of breast cancer in women of African ancestry.

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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

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Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.

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Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

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Mammographic density and breast cancer: a comparison of related and unrelated controls in the breast cancer family registry.

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Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.

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A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.

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Tumoral lymphocytic infiltration and expression of the chemokine CXCL10 in breast cancers from the Ontario Familial Breast Cancer Registry.

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Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.

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Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant.

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Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

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Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

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Total energy intake and breast cancer risk in sisters: the Breast Cancer Family Registry.

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Diagnostic Chest X-Rays and Breast Cancer Risk before Age 50 Years for BRCA1 and BRCA2 Mutation Carriers.

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A Large-Scale Assessment of Two-Way SNP Interactions in Breast Cancer Susceptibility Using 46, 450 Cases and 42,461 Controls from the Breast Cancer Association Consortium.

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Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

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Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction.

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Genetic Ancestry and Risk of Mortality Among U.S. Latinas with Breast Cancer.

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The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant.

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Racial and ethnic differences in adjuvant hormonal therapy use.

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Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

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Second to fourth digit ratio (2D:4D), breast cancer risk factors, and breast cancer risk: a prospective cohort study.

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Rare mutations in XRCC2 increase the risk of breast cancer.

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Beliefs about optimal age and screening frequency predict breast screening adherence in a prospective study of female relatives from the Ontario site of the Breast Cancer Family Registry.

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Genetic variation in telomere maintenance genes, telomere length and breast cancer risk.

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PMCID:PMC3435409

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

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19p13.1 is a triple-negative-specific breast cancer susceptibility locus.

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Identification of a novel percent mammographic density locus at 12q24.

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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.

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Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk.

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Mammographic breast density and breast cancer: evidence of a shared genetic basis.

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9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium.

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CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.

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PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.

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Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry.

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Genomic methylation changes over time in peripheral blood mononuclear cell DNA: differences by assay type and baseline values.

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Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry.

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Rare variants in the ATM gene and risk of breast cancer.

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Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

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Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue.

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Citation:Breast Cancer Res Treat. 2011 Jul;128(2):505-16. Epub 2011 Jan 22.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21258862 (will open in a new window)

A role for XRCC2 gene polymorphisms in breast cancer risk and survival.

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Citation:J Med Genet. 2011 Jul;48(7):477-84. Epub 2011 May 31.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21632523 (will open in a new window)

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.

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Citation:Nat Genet. 2011 Mar;43(3):185-7. Epub 2011 Jan 30.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21278746 (will open in a new window)

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Exploring the link between MORF4L1 and risk of breast cancer.

Authors: Martrat G, Maxwell CM, Tominaga E, et al.

Citation:Breast Cancer Res. 2011 Apr 5;13(2):R40.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21466675 (will open in a new window)

PMCID:PMC3219203

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Authors: Maxwell CA, Benítez J, Gómez-Baldó L, et al.

Citation:PLoS Biol. 2011 Nov;9(11):e1001199. Epub 2011 Nov 15.

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Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer.

Authors: Milne RL, Goode EL, García-Closas M, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2222-31. Epub 2011 Jul 27.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21795498 (will open in a new window)

The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family Registry.

Authors: Milne RL, John EM, Knight JA, et al.

Citation:Int J Epidemiol. 2011 Oct;40(5):1342-54. Epub 2011 Jul 19.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21771852 (will open in a new window)

PMCID:PMC3204209

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

Authors: Milne RL, Lorenzo-Bermejo J, Burwinkel B, et al.

Citation:J Med Genet. 2011 Oct;48(10):698-702.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21931171 (will open in a new window)

PMCID:PMC3371608

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

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Citation:Breast Cancer Res. 2011;13(6):R110. Epub 2011 Nov 2.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/22053997 (will open in a new window)

PMCID:PMC3326552

CK8/18 expression, the basal phenotype, and family history in identifying BRCA1-associated breast cancer in the Ontario site of the breast cancer family registry.

Authors: Mulligan AM, Pinnaduwage D, Bane AL, et al.

Citation:Cancer. 2011 Apr 1;117(7):1350-9. Epub 2010 Nov 2.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21425134 (will open in a new window)

PMCID:PMC3116977

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

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Citation:PLoS Genet. 2011 Oct;7(10):e1002298. Epub 2011 Oct 6.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21998595 (will open in a new window)

PMCID:PMC3188544

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer.

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Citation:Breast Cancer Res Treat. 2011 Dec;130(3):1043-9. Epub 2011 Aug 21.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21858661 (will open in a new window)

No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study.

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Citation:Breast Cancer Res Treat. 2011 Jan;125(1):229-35. Epub 2010 May 30.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20512660 (will open in a new window)

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

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Citation:PLoS Genet. 2011 Apr;7(4):e1001371. Epub 2011 Apr 21.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21541012 (will open in a new window)

PMCID:PMC3080860

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.

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Citation:Clin Cancer Res. 2011 Jun 1;17(11):3742-50. Epub 2011 Mar 8.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21385923 (will open in a new window)

PMCID:PMC3107901

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

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Citation:J Natl Cancer Inst. 2011 Jan 19;103(2):105-16. Epub 2010 Dec 17.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21169536 (will open in a new window)

PMCID:PMC3107565

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes.

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Citation:Cancer Res. 2011 Sep 1;71(17):5792-805. Epub 2011 Jul 28.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21799032 (will open in a new window)

PMCID:PMC3170727

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

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Citation:J Med Genet. 2011 Jan;48(1):64-8. Epub 2010 Oct 4.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20921021 (will open in a new window)

PMCID:PMC3003879

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry.

Authors: Smith LD, Tesoriero AA, Wong EM, et al.

Citation:Breast Cancer Res. 2011 Jan 31;13(1):R14.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21281505 (will open in a new window)

PMCID:PMC3109582

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

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Citation:Br J Cancer. 2011 Mar 15;104(6):903-9. Epub 2011 Feb 22.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21343941 (will open in a new window)

PMCID:PMC3065278

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk.

Authors: Stevens KN, Garcia-Closas M, Fredericksen Z, et al.

Citation:Br J Cancer. 2011 Dec 6;105(12):1934-9. Epub 2011 Oct 27.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/22033276 (will open in a new window)

PMCID:PMC3251877

DNA methylation in white blood cells: association with risk factors in epidemiologic studies.

Authors: Terry MB, Delgado-Cruzata L, Vin-Raviv N, et al.

Citation:Epigenetics. 2011 Jul;6(7):828-37. Epub 2011 Jul 1. Review.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21636973 (will open in a new window)

PMCID:PMC3154425

Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families.

Authors: Thorne H, Willems AJ, Niedermayr E, et al.

Citation:Cancer Prev Res (Phila). 2011 Jul;4(7):1002-10.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21733824 (will open in a new window)

Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR).

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Citation:Breast Cancer Res. 2011 Aug 11;13(4):R77.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21835029 (will open in a new window)

PMCID:PMC3236341

Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer.

Authors: Wong EM, Southey MC, Fox SB, et al.

Citation:Cancer Prev Res (Phila). 2011 Jan;4(1):23-33. Epub 2010 Oct 26.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20978112 (will open in a new window)

Global DNA methylation levels in girls with and without a family history of breast cancer.

Authors: Wu HC, John EM, Ferris JS, et al.

Citation:Epigenetics. 2011 Jan;6(1):29-33. Epub 2011 Jan 1.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20930546 (will open in a new window)

PMCID:PMC3052913

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

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Citation:J Natl Cancer Inst. 2011 Feb 2;103(3):250-63. Epub 2010 Dec 29.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21191117 (will open in a new window)

PMCID:PMC3107570

Influence of perceived breast cancer risk on screening behaviors of female relatives from the Ontario site of the Breast Cancer Family Registry.

Authors: Zhang LR, Chiarelli AM, Glendon G, et al.

Citation:Eur J Cancer Prev. 2011 Jul;20(4):255-62.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21467941 (will open in a new window)

PMCID:PMC3104111

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Authors: Antoniou AC, Beesley J, McGuffog L, et al.

Citation:Cancer Res. 2010 Dec 1;70(23):9742-54. Epub 2010 Nov 30.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21118973 (will open in a new window)

PMCID:PMC2999830

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Authors: Antoniou AC, Wang X, Fredericksen ZS, et al.

Citation:Nat Genet. 2010 Oct;42(10):885-92. Epub 2010 Sep 19.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20852631 (will open in a new window)

PMCID:PMC3130795

The potential for enhancing the power of genetic association studies in African Americans through the reuse of existing genotype data.

Authors: Chen GK, Millikan RC, John EM, et al.

Citation:PLoS Genet. 2010 Sep 2;6(9):e1001096.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20824062 (will open in a new window)

PMCID:PMC2932740

Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations.

Authors: Dite GS, Whittemore AS, Knight JA, et al.

Citation:Br J Cancer. 2010 Sep 28;103(7):1103-8. Epub 2010 Sep 7.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20877337 (will open in a new window)

PMCID:PMC2965877

European ancestry is positively associated with breast cancer risk in Mexican women.

Authors: Fejerman L, Romieu I, John EM, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2010 Apr;19(4):1074-82. Epub 2010 Mar 23.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20332279 (will open in a new window)

PMCID:PMC2852491

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Authors: Gaudet MM, Kirchhoff T, Green T, et al.

Citation:PLoS Genet. 2010 Oct 28;6(10):e1001183.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21060860 (will open in a new window)

PMCID:PMC2965747

A qualitative study evaluating parental attitudes towards the creation of a female youth cohort (LEGACY) in the Breast Cancer Family Registry.

Authors: Glendon G, Frost CJ, Andrulis IL, et al.

Citation:Psychooncology. 2010 Jan;19(1):93-101.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19415783 (will open in a new window)

The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers.

Authors: Jakubowska A, Rozkrut D, Antoniou A, et al.

Citation:Breast Cancer Res Treat. 2010 Jun;121(3):639-49. Epub 2009 Oct 30.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19876733 (will open in a new window)

PMCID:PMC3077711

Past recreational physical activity, body size, and all-cause mortality following breast cancer diagnosis: results from the Breast Cancer Family Registry.

Authors: Keegan TH, Milne RL, Andrulis IL, et al.

Citation:Breast Cancer Res Treat. 2010 Sep;123(2):531-42. Epub 2010 Feb 7.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20140702 (will open in a new window)

PMCID:PMC2920352

Availability and accuracy of medical record information on language usage of cancer patients from a multi-ethnic population.

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Citation:J Immigr Minor Health. 2010 Aug;12(4):480-8.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19685187 (will open in a new window)

PMCID:PMC2889213

New strategies in ovarian cancer: uptake and experience of women at high risk of ovarian cancer who are considering risk-reducing salpingo-oophorectomy.

Authors: Miller SM, Roussi P, Daly MB, et al.

Citation:Clin Cancer Res. 2010 Nov 1;16(21):5094-106. Epub 2010 Sep 9. Review.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/20829330 (will open in a new window)

PMCID:PMC3107031

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study.

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Citation:Breast Cancer Res. 2010;12(6):R110. Epub 2010 Dec 31.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21194473 (will open in a new window)

PMCID:PMC3046455

Socio-economic status and survival from breast cancer for young, Australian, urban women.

Authors: Morley K, Milne R, Giles GG, et al.

Citation:Aust N Z J Public Health. 2010 Apr; 34(2): 200-5

A PALB2 mutation associated with high risk of breast cancer.

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Citation:Breast Cancer Res. 2010;12(6):R109. Epub 2010 Dec 23.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21182766 (will open in a new window)

PMCID:PMC3046454

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

Authors: Ahmed S, Thomas G, Ghoussaini M, et al.

Citation:Nat Genet. 2009 May;41(5):585-90. Epub 2009 Mar 29.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19330027 (will open in a new window)

PMCID:PMC2748125

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study.

Authors: Antoniou AC, Rookus M, Andrieu N, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2009 Feb;18(2):601-10. Epub 2009 Feb 3.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19190154 (will open in a new window)

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors: Antoniou AC, Sinilnikova OM, McGuffog L, et al.

Citation:Hum Mol Genet. 2009 Nov 15;18(22):4442-56. Epub 2009 Aug 5.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19656774 (will open in a new window)

PMCID:PMC2782243

Measuring, and identifying predictors of women’s perceptions of three types of breast cancer risk: population risk, absolute risk and comparative risk.

Authors: Apicella C, Peacock SJ, Andrews L, et al.

Citation:Br J Cancer. 2009 Feb 24;100(4):583-9. Epub 2009 Feb 10.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19209174 (will open in a new window)

PMCID:PMC2653735

Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors.

Authors: Bane AL, Pinnaduwage D, Colby S, et al.

Citation:Breast Cancer Res Treat. 2009 Sep;117(1):183-91. Epub 2008 Jun 18.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/18563556 (will open in a new window)

PMCID:PMC2727582

Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

Authors: Chang ET, Milne RL, Phillips KA, et al.

Citation:Breast Cancer Res Treat. 2009 Sep;117(1):167-76. Epub 2008 Nov 26.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19034644 (will open in a new window)

PMCID:PMC2728159

Admixture mapping of 15,280 African Americans identifies obesity susceptibility loci on chromosomes 5 and X.

Authors: Cheng CY, Kao WH, Patterson N, et al.

Citation:PLoS Genet. 2009 May;5(5):e1000490. Epub 2009 May 22.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19461885 (will open in a new window)

PMCID:PMC2679192

The impact of social roles on the experience of men in BRCA1/2 families: implications for counseling.

Authors: Daly MB.

Citation:J Genet Couns. 2009 Feb;18(1):42-8. Epub 2008 Aug 8.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/18688698 (will open in a new window)

PMCID:PMC2629810

A prospective study of quality of life among women undergoing risk-reducing salpingo-oophorectomy versus gynecologic screening for ovarian cancer.

Authors: Fang CY, Cherry C, Devarajan K, et al.

Citation:Gynecol Oncol. 2009 Mar;112(3):594-600. Epub 2009 Jan 13.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19141360 (will open in a new window)

PMCID:PMC2697574

Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk.

Authors: Fehringer G, Boyd NF, Knight JA, et al.

Citation:Breast Cancer Res Treat. 2009 Nov;118(2):415-24. Epub 2009 Feb 20.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19229608 (will open in a new window)

Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women.

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Citation:Breast Cancer Res Treat. 2009 Jul;116(2):413-23. Epub 2008 Sep 11.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/18785005 (will open in a new window)

An admixture scan in 1,484 African American women with breast cancer.

Authors: Fejerman L, Haiman CA, Reich D, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2009 Nov;18(11):3110-7. Epub 2009 Oct 20.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19843668 (will open in a new window)

PMCID:PMC2783219

Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States.

Authors: Huo D, Senie RT, Daly M, et al.

Citation:J Clin Oncol. 2009 Mar 10;27(8):1184-90. Epub 2009 Feb 2.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19188678 (will open in a new window)

PMCID:PMC2667822

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis.

Authors: Johnatty SE, Beesley J, Chen X, et al.

Citation:Breast Cancer Res Treat. 2009 May;115(1):145-50. Epub 2008 May 15.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/18481171 (will open in a new window)

A pilot genome-wide association study of early-onset breast cancer.

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Citation:Breast Cancer Res Treat. 2009 Apr;114(3):463-77. Epub 2008 May 8.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/18463975 (will open in a new window)

Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry.

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Citation:Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1084-91. Epub 2009 Mar 31.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19336551 (will open in a new window)

PMCID:PMC2706699

Pancreatic cancer surveillance among high-risk populations: knowledge and intent.

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Citation:J Genet Couns. 2009 Jun;18(3):229-38. Epub 2009 Mar 5.

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Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development.

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Citation:Hugo J. 2009 Dec;3(1-4):31-40. Epub 2010 Apr 13.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/21119756 (will open in a new window)

PMCID:PMC2882646

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

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Citation:J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. Epub 2009 Jun 30.

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Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

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Citation:Breast Cancer Res. 2009;11(5):R76. Epub .

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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

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Citation:Hum Mutat. 2009 Jun;30(6):884-90.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19347964 (will open in a new window)

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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

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Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry.

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Citation:Cancer Epidemiol Biomarkers Prev. 2009 Jun;18(6):1792-7.

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No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.

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Citation:Breast Cancer Res Treat. 2009 May;115(1):185-92. Epub 2008 Jun 4.

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Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

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Citation:Cancer Res. 2009 Jul 15;69(14):5801-10. Epub 2009 Jul 7.

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No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.

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Citation:Breast Cancer Res Treat. 2009 May;115(2):307-13. Epub 2008 Jun 10.

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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

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Citation:Am J Hum Genet. 2009 Oct;85(4):427-46. Epub 2009 Sep 24.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/19781682 (will open in a new window)

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A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

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Citation:Nat Genet. 2009 May;41(5):579-84. Epub 2009 Mar 29.

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A role for the TGFbeta-Par6 polarity pathway in breast cancer progression.

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AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.

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A common coding variant in CASP8 is associated with breast cancer risk.

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A systematic approach to analysing gene-gene interactions: polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk.

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Alcohol metabolism, alcohol intake, and breast cancer risk: a sister-set analysis using the Breast Cancer Family Registry.

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Genetic association studies: time for a new paradigm?

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CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

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Citation:Cancer Res. 2004 Feb 15;64(4):1534-40.

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Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA).

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The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years.

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Re: On the use of familial aggregation in population-based case probands for calculating penetrance.

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Citation:Genes Chromosomes Cancer. 2002 Nov;35(3):232-41.

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Alcohol, tobacco and breast cancer–collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease.

Authors: Hamajima N, Hirose K, Tajima K, et al.

Citation:Br J Cancer. 2002 Nov 18;87(11):1234-45.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/12439712 (will open in a new window)

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Re: Presenting statistical uncertainty in trends and dose-response relations”.”

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Citation:Am J Epidemiol. 2002 May 15;155(10):977-8; author reply 978-9.

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Genetic epidemiology: putting genes and environment into perspective.

Authors: Hopper JL.

Citation:Chiron. 2002;4:11-4.

Modified rapid expansion detection method to analyze Cag/CTG repeat expansions.

Authors: Jarjanazi H, Ozcelik H.

Citation:Biotechniques. 2002 May;32(5):1006, 1008, 1010.

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Characteristics associated with participation at various stages at the Ontario site of the cooperative family registry for breast cancer studies.

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Citation:Ann Epidemiol. 2002 Jan;12(1):27-33.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11750237 (will open in a new window)

Studying cancer incidence and outcomes in immigrants: methodological concerns.

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Citation:Am J Public Health. 2002 Nov;92(11):1757-9.

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Birthplace and survival among Asian women diagnosed with breast cancer in cancer registry data: the impact of selection bias.

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Citation:Int J Epidemiol. 2002 Apr;31(2):511-3; author reply 513.

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Removal of benzo(a)pyrene diol epoxide (BPDE)-DNA adducts as a measure of DNA repair capacity in lymphoblastoid cell lines from sisters discordant for breast cancer.

Authors: Motykiewicz G, Faraglia B, Wang LW, et al.

Citation:Environ Mol Mutagen. 2002;40(2):93-100.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/12203401 (will open in a new window)

HER-2/neu status and tumor morphology of invasive breast carcinomas in Ashkenazi women with known BRCA1 mutation status in the Ontario Familial Breast Cancer Registry.

Authors: Quenneville LA, Phillips KA, Ozcelik H, et al.

Citation:Cancer. 2002 Nov 15;95(10):2068-75.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/12412159 (will open in a new window)

Tests for genetic association using family data.

Authors: Shih MC, Whittemore AS.

Citation:Genet Epidemiol. 2002 Feb;22(2):128-45.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11788959 (will open in a new window)

The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer.

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Citation:Pharmacogenetics. 2002 Jul;12(5):355-66.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/12142725 (will open in a new window)

The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

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Citation:Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):413-6.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11927503 (will open in a new window)

The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women.

Authors: Spurdle AB, Hopper JL, Chen X, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2002 May;11(5):439-43.

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Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women.

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Citation:Lancet. 2002 Sep 21;360(9337):925-6.

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No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.

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Citation:Breast Cancer Res. 2002;4(6):R15. Epub 2002 Aug 21.

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Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium.

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Citation:Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):827-31. Epub 2002 Jan 15.

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What do we share? Developing informed consent with teens to join a familial cancer registry.

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Citation:Joint Commission Benchmark. 2002;4(1):6-7.

Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies.

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Citation:Cancer Epidemiol Biomarkers Prev. 2001 May;10(5):551-4.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11352867 (will open in a new window)

Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease.

Authors: Collaborative Group on Hormonal Factors in Breast Cancer.

Citation:Lancet. 2001 Oct 27;358(9291):1389-99. Review.

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After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer.

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Citation:Am J Hum Genet. 2001 Feb;68(2):420-31. Epub 2000 Dec 27.

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Distribution of family history of a disease as a function of mode of inheritance, genetic relative hazard, allele frequency and disease status of the proband, with application to female breast cancer.

Authors: Cui J, Hopper JL.

Citation:J Epidemiol Biostat. 2001;6(4):331-42.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/12036267 (will open in a new window)

Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey.

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More breast cancer genes?

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Citation:Breast Cancer Res. 2001;3(3):154-7. Epub 2001 Mar 29. Review.

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Genetic epidemiology of female breast cancer.

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Citation:Semin Cancer Biol. 2001 Oct;11(5):367-74. Review.

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Why not grant primacy to the family?

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Citation:Am J Bioeth. 2001 Summer;1(3):33-4.

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A qualitative study of subject recruitment for familial cancer research.

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The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia.

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Citation:Breast Cancer Res. 2001;3(5):346-9. Epub 2001 Jul 17.

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Prevalence of self-reported arm morbidity following treatment for breast cancer in the Australian Breast Cancer Family Study.

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Citation:Breast. 2001 Dec;10(6):515-22.

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Allele-sharing among affected relatives: non-parametric methods for identifying genes.

Authors: Shih MC, Whittemore AS.

Citation:Stat Methods Med Res. 2001 Feb;10(1):27-55. Review.

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The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women.

Authors: Spurdle AB, Hopper JL, Chen X, et al.

Citation:Cancer Epidemiol Biomarkers Prev. 2001 Dec;10(12):1287-93.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11751447 (will open in a new window)

The Cooperative Familial Registry for Breast Cancer Studies: design and first year recruitment rates in Ontario.

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Citation:J Clin Epidemiol. 2001 Jan;54(1):93-8.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11165472 (will open in a new window)

A single nucleotide polymorphism in the 5′ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.

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Citation:Cancer Epidemiol Biomarkers Prev. 2001 Sep;10(9):955-60.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11535547 (will open in a new window)

Problems in the definition, interpretation, and evaluation of genetic heterogeneity.

Authors: Whittemore AS, Halpern J.

Citation:Am J Hum Genet. 2001 Feb;68(2):457-65. Epub 2001 Jan 19.

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Descriptive study on the use of prophylactic surgery in women with known BRCA mutations: the Mount Sinai Hospital experience.

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Citation:Breast Cancer Res Treat. 2000;64:518.

Participation in the cooperative family registry for breast cancer studies: issues of informed consent.

Authors: Daly MB, Offit K, Li F, et al.

Citation:J Natl Cancer Inst. 2000 Mar 15;92(6):452-6. Review.

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A supportive-expressive group intervention for women with a family history of breast cancer: results of a phase II study.

Authors: Esplen MJ, Toner B, Hunter J, et al.

Citation:Psychooncology. 2000 May-Jun;9(3):243-52.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10871720 (will open in a new window)

A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center.

Authors: Gilpin CA, Carson N, Hunter AG.

Citation:Clin Genet. 2000 Oct;58(4):299-308.

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Management of familial breast cancer risk.

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Citation:Breast Cancer Res Treat. 2000 Jul;62(1):19-33. Review.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10989983 (will open in a new window)

Colonoscopy screening in individuals with BRCA1 gene mutation.

Authors: Harmston GE, Scaife C, Buys S, et al.

Citation:Am J Gastroenterol. 2000;95:2535.

Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2.

Authors: Phillips KA, Warner E, Meschino WS, et al.

Citation:Clin Genet. 2000 May;57(5):376-83.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10852372 (will open in a new window)

Collective fear, individualized risk: the social and cultural context of genetic testing for breast cancer.

Authors: Press N, Fishman JR, Koenig BA.

Citation:Nurs Ethics. 2000 May;7(3):237-49. Review.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10986947 (will open in a new window)

CYP17 promoter polymorphism and breast cancer in Australian women under age forty years.

Authors: Spurdle AB, Hopper JL, Dite GS, et al.

Citation:J Natl Cancer Inst. 2000 Oct 18;92(20):1674-81.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/11036113 (will open in a new window)

Detection of disease genes by use of family data. II. Application to nuclear families.

Authors: Tu IP, Balise RR, Whittemore AS.

Citation:Am J Hum Genet. 2000 Apr;66(4):1341-50. Epub 2000 Mar 29.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10739759 (will open in a new window)

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Detection of disease genes by use of family data. I. Likelihood-based theory.

Authors: Whittemore AS, Tu IP.

Citation:Am J Hum Genet. 2000 Apr;66(4):1328-40. Epub 2000 Mar 29.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10739758 (will open in a new window)

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Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study.

Authors: Armes JE, Trute L, White D, et al.

Citation:Cancer Res. 1999 Apr 15;59(8):2011-7.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10213514 (will open in a new window)

Hereditary breast cancer. Psychosocial issues and family physicians’ role.

Authors: Carroll JC, Heisey RE, Warner E, et al.

Citation:Can Fam Physician. 1999 Jan;45:126-32. Review.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10889865 (will open in a new window)

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Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR.

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Citation:Clin Chem. 1999 Aug;45(8 Pt 1):1285-7.

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The importance of a family history of breast cancer in predicting the presence of a BRCA mutation.

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Citation:Am J Hum Genet. 1999 Dec;65(6):1776-9.

PubMed Link: https://www.ncbi.nlm.nih.gov/pubmed/10577933 (will open in a new window)

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Hereditary breast cancer. Identifying and managing BRCA1 and BRCA2 carriers.

Authors: Heisey RE, Carroll JC, Warner E, et al.

Citation:Can Fam Physician. 1999 Jan;45:114-24. Review.

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Design and analysis issues in a population-based, case-control-family study of the genetic epidemiology of breast cancer and the Co-operative Family Registry for Breast Cancer Studies (CFRBCS).

Authors: Hopper JL, Chenevix-Trench G, Jolley DJ, et al.

Citation:J Natl Cancer Inst Monogr. 1999;(26):95-100.

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Modeling the probability that Ashkenazi Jewish women carry a founder mutation in BRCA1 or BRCA2.

Authors: Hopper JL, Jenkins MA.

Citation:Am J Hum Genet. 1999 Dec;65(6):1771-6.

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Development of a knowledge scale about breast cancer and heredity (BCHK).

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Citation:Breast Cancer Res Treat. 1999 Jan;53(1):69-75.

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The Mental Adjustment to Cancer (MAC) scale: replication and refinement in 632 breast cancer patients.

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Citation:Psychol Med. 1999 Nov;29(6):1335-45.

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Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript.

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Citation:Hum Mutat. 1999;14(6):540-1.

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Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: are they prognostically different?

Authors: Phillips KA, Andrulis IL, Goodwin PJ.

Citation:J Clin Oncol. 1999 Nov;17(11):3653-63. Review.

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Putting the risk of breast cancer in perspective.

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Citation:N Engl J Med. 1999 Jan 14;340(2):141-4.

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Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations.

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Citation:J Natl Cancer Inst. 1999 Mar 3;91(5):469-73.

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Editorial. Innovative study designs and analytic approaches to the genetic epidemiology of cancer.

Authors: Seminara D.

Citation:J Natl Cancer Inst Monogr. 1999;(26):1-105.

Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years.

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Citation:J Natl Cancer Inst. 1999 Jun 2;91(11):961-6.

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Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer.

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Pilot study of an information aid for women with a family history of breast cancer.

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Citation:Health Expect. 1999 May;2(2):118-128.

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Citation:Can Fam Physician. 1999 Jan;45:104-12. Review.

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The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study.

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Citation:Cancer. 1998 Dec 1;83(11):2335-45.

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Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

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Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations.

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New Ontario familial breast cancer registry to facilitate genetic and epidemiologic studies.

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