Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer - Tung, N.; Lin, N. U.; Kidd, J.; Allen, B. A.; Singh, N.; Wenstrup, R. J. (J Clin Oncol, 2016)

Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline - Tung, N. M.; Boughey, J. C.; Pierce, L. J.; Robson, M. E.; Bedrosian, I.; Dietz, J. R. (J Clin Oncol, 2020)

The heritability of breast cancer: a Bayesian correlated frailty model applied to Swedish twins data - Locatelli, I.; Lichtenstein, P.; Yashin, A. I. (Twin Res, 2004)

The heritability of breast cancer among women in the Nordic Twin Study of Cancer - Moller, S.; Mucci, L. A.; Harris, J. R.; Scheike, T.; Holst, K.; Halekoh, U. (Cancer Epidemiol Biomark Prev, 2016)

Associations between cancer predisposition testing panel genes and breast cancer - Couch, F. J.; Shimelis, H.; Hu, C.; Hart, S. N.; Polley, E. C.; Na, J. (JAMA Oncol, 2017)

A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes - Buys, S. S.; Sandbach, J. F.; Gammon, A.; Patel, G.; Kidd, J.; Brown, K. L. (Cancer, 2017)

BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing - Shattuck-Eidens, D.; Oliphant, A.; McClure, M.; McBride, C.; Gupte, J.; Rubano, T. (JAMA, 1997)

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium - Ford, D.; Easton, D. F.; Stratton, M.; Narod, S.; Goldgar, D.; Devilee, P. (Am J Hum Genet, 1998)

Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer - Gonzalez-Angulo, A. M.; Timms, K. M.; Liu, S.; Chen, H.; Litton, J. K.; Potter, J. (Clin Cancer Res, 2011)

Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications - McClain, M. R.; Palomaki, G. E.; Nathanson, K. L.; Haddow, J. E. (Genet Med, 2005)

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 - Roa, B. B.; Boyd, A. A.; Volcik, K.; Richards, C. S. (Nat Genet, 1996)

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews - Hartge, P.; Struewing, J. P.; Wacholder, S.; Brody, L. C.; Tucker, M. A. (Am J Hum Genet, 1999)

The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability - Gudmundsdottir, K.; Ashworth, A. (Oncogene, 2006)

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers - Kuchenbaecker, K. B.; Hopper, J. L.; Barnes, D. R.; Phillips, K. A.; Mooij, T. M.; Roos-Blom, M. J. (JAMA, 2017)

Meta-analysis of BRCA1 and BRCA2 penetrance - Chen, S.; Parmigiani, G. (J Clin Oncol, 2007)

Consortium C-BC (2002) Low-penetrance susceptibility to breast cancer due to CHEK2* 1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31(1):55

Consortium CBCC-C (2004) CHEK2* 1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74(6):1175–1182

Gene-panel sequencing and the prediction of breast-cancer risk - Easton, D. F.; Pharoah, P. D.; Antoniou, A. C.; Tischkowitz, M.; Tavtigian, S. V.; Nathanson, K. L. (N Engl J Med, 2015)

Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation - Schmidt, M. K.; Tollenaar, R. A.; Kemp, S. R.; Broeks, A.; Cornelisse, C. J.; Smit, V. T. (J Clin Oncol, 2007)

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer - Cybulski, C.; Wokołorczyk, D.; Jakubowska, A.; Huzarski, T.; Byrski, T.; Gronwald, J. (J Clin Oncol, 2011)

The CHEK2* 1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry - Bernstein, J. L.; Teraoka, S. N.; John, E. M.; Andrulis, I. L.; Knight, J. A.; Lapinski, R. (Cancer Epidemiol Prev Biomark, 2006)

Tumor suppressor CHK2: regulator of DNA damage response and mediator of chromosomal stability - Stolz, A.; Ertych, N.; Bastians, H. (Clin Cancer Res, 2011)

Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility - Xiang, H. P.; Geng, X. P.; Ge, W. W.; Li, H. (Eur J Cancer, 2011)

ClinVar: improving access to variant interpretations and supporting evidence - Landrum, M. J.; Lee, J. M.; Benson, M.; Brown, G. R.; Chao, C.; Chitipiralla, S. (Nucleic Acids Res, 2018)

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women - Rebbeck, T. R.; Friebel, T. M.; Mitra, N.; Wan, F.; Chen, S.; Andrulis, I. L. (Breast Cancer Res, 2016)

Gene-gene interactions in breast cancer susceptibility - Turnbull, C.; Seal, S.; Renwick, A.; Warren-Perry, M.; Hughes, D.; Elliott, A. (Hum Mol Genet, 2012)

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations - Leegte, B.; Hout, A. H.; Deffenbaugh, A. M.; Bakker, M. K.; Mulder, I. M.; Berge, A. (J Med Genet, 2005)

BRCA challenge: BRCA exchange as a global resource for variants in BRCA1 and BRCA2 - Cline, M. S.; Liao, R. G.; Parsons, M. T.; Paten, B.; Alquaddoomi, F.; Antoniou, A. (PLoS Genet, 2018)

Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: a systematic review and case report analysis - Page, C.; Rahimi, K.; Rodrigues, M.; Heinzelmann-Schwarz, V.; Recio, N.; Tommasi, S. (Gynecol Oncol, 2020)

Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family - Vietri, M. T.; Molinari, A. M.; Caliendo, G.; Paola, M. L.; Giovanna, D.; Gambardella, A. L. (Clin Chem Lab Med, 2013)

Case report: analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family - Liao, Y.; Tu, C.; Song, X.; Cai, L. (J Assist Reprod Genet, 2020)

BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population - Cardoso, F. C.; Goncalves, S.; Mele, P. G.; Liria, N. C.; Sganga, L.; Diaz Perez, I. (Hum Genomics, 2018)

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management - Heidemann, S.; Fischer, C.; Engel, C.; Fischer, B.; Harder, L.; Schlegelberger, B. (Breast Cancer Res Treat, 2012)

Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population - Lavie, O.; Narod, S.; Lejbkowicz, F.; Dishon, S.; Goldberg, Y.; Gemer, O. (Ann Oncol, 2011)

Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations - Sokolenko, A. P.; Bogdanova, N.; Kluzniak, W.; Preobrazhenskaya, E. V.; Kuligina, E. S.; Iyevleva, A. G. (Breast Cancer Res Treat, 2014)

Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations - Cybulski, C.; Górski, B.; Huzarski, T.; Byrski, T.; Gronwald, J.; Debniak, T. (J Med Genet, 2009)

Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2 - Burke, W.; Daly, M.; Garber, J.; Botkin, J.; Kahn, M. J. E.; Lynch, P. (JAMA, 1997)

MRI surveillance for hereditary breast-cancer risk - Warner, E.; Causer, P. A. (The Lancet, 2005)

Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers - Hartmann, L. C.; Sellers, T. A.; Schaid, D. J.; Frank, T. S.; Soderberg, C. L.; Sitta, D. L. (J Natl Cancer Inst, 2001)

NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020 - Daly, M. B.; Pilarski, R.; Yurgelun, M. B.; Berry, M. P.; Buys, S. S.; Dickson, P. (J Natl Compr Canc Netw., 2020)

Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers - Rebbeck, T. R.; Kauff, N. D.; Domchek, S. M. (J Natl Cancer Inst, 2009)

Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT et al (2017) Bilateral oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 109(1)

Association of a polygenic risk score with breast cancer among women carriers of high- and moderate-risk breast cancer genes - Gallagher, S.; Hughes, E.; Wagner, S.; Tshiaba, P.; Rosenthal, E.; Roa, B. B. (JAMA Netw Open, 2020)