Miki Y, Swensen J, Shattuck-Eidens et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA 1. Science 266:66–71

Article  CAS  PubMed  Google Scholar 

Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792

Article  CAS  PubMed  Google Scholar 

Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumors. Nature 490:61–70

Article  Google Scholar 

National Comprehensive Cancer Network (2023) Clinical practice guidelines in oncology: guidelines on detection, prevention, and risk reduction: genetic/familial high-risk assessment: breast, ovarian, and pancreatic. https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed 25 Nov 2022

Alberty-Oller JJ, Weltz S, Santos A et al (2020) Adherence to NCCN guidelines for genetic testing in breast cancer patients: Who are we missing? Ann Surg Oncol 28(1):281–286. https://doi.org/10.1245/s10434-020-09123-z

Article  PubMed  Google Scholar 

Beitsch PD, Whitworth PW, Hughes K et al (2019) Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 37(6):453–460. https://doi.org/10.1200/jco.18.01631

Article  PubMed  Google Scholar 

Robson M, Im S, Senkus E et al (2017) Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. NEJM 377(6):523–533. https://doi.org/10.1056/NEJMoa1706450

Article  CAS  PubMed  Google Scholar 

Tutt ANJ, Garber JE, Kaufman B et al (2021) Adjuvant olaparib for patients with BRCA1- or BRCA 2-mutated breast cancer. NEJM 384(25):2394–2405. https://doi.org/10.1056/NEJMoa2105215

Article  CAS  PubMed  Google Scholar 

Manahan ER, Kuerer HM, Sebastian M et al (2019) Consensus guidelines on genetic testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol 26(10):3025–3031. https://doi.org/10.1245/s10434-019-07549-8

Article  PubMed  PubMed Central  Google Scholar 

Tung N, Zakalik D, Somerfield MR et al (2021) ASCO Rapid recommendations: adjuvant PARP inhibitors in patients with high-risk early-stage HER2-negative breast cancer and germline BRCA mutations: ASCO hereditary breast cancer guideline rapid recommendation update. J Clin Oncol 39(26):2959–2961. https://doi.org/10.1200/JCO.21.01532

Article  CAS  PubMed  Google Scholar 

Maxwell KN, Hart SN, Vijai J et al (2016) Evaluation of ACMG-guideline-based variant classification of cancer susceptibility and non-cancer-associated genes in families affected by breast cancer. Am J Hum Genet 98(5):801–817. https://doi.org/10.1016/j.ajhg.2016.02.024

Article  CAS  PubMed  PubMed Central  Google Scholar 

Childers CP, Childers KK, Maggard-Gibbons M, Macinko J (2017) National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol 35(34):3800–3806. https://doi.org/10.1200/jco.2017.73.6314

Article  PubMed  PubMed Central  Google Scholar 

Culver JO, Freiberg Y, Ricker C et al (2022) Integration of universal germline genetic testing for all new breast cancer patients. Ann Surg Oncol 30(2):1017–1025. https://doi.org/10.1245/s10434-022-12595-w

Article  PubMed  PubMed Central  Google Scholar 

Chapman-Davis E, Zhou ZN, Fields J et al (2021) Racial and ethnic disparities in genetic testing at a hereditary breast and ovarian cancer center. J Gen Intern Med 36(1):35–42. https://doi.org/10.1007/s11606-020-06064-x

Article  PubMed  Google Scholar 

Forman AD, Hall MJ (2009) Influence of race⁄ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer. Breast J 15(Suppl 1):S56-62. https://doi.org/10.1111/j.1524-4741.2009.00798.x

Article  PubMed  Google Scholar 

Boddicker NJ, Hu C, Weitzel JN et al (2021) Risk of late-onset breast cancer in genetically predisposed women. J Clin Oncol 39(31):3430–3440. https://doi.org/10.1200/jco.21.00531

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brown KL, Hutchison R, Zinberg RE, McGovern MM (2005) Referral and experience with genetic testing among women with early onset breast cancer. Genet Test 9(4):301–305. https://doi.org/10.1089/gte.2005.9.301

Article  PubMed  Google Scholar 

Stuckey A, Febbraro T, Laprise J et al (2016) Adherence patterns to National Comprehensive Cancer Network guidelines for referral of women with breast cancer to genetic professionals. Am J Clin Oncol 39:363–367. https://doi.org/10.1097/COC.0000000000000073

Article  PubMed  Google Scholar 

Elson NC, Lewis JD, Shaughnessy EA, Reyna C (2023) Lessons from other fields of medicine, part 1: breast cancer. Handb Clin Neurol. https://doi.org/10.1016/b978-0-323-85538-9.00003-1

Article  PubMed  Google Scholar 

Warias A, Ferguson M, Chamberlain E et al (2021) Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: evaluating a new collaborative care model. J Genet Counseling 30(5):1491–1499. https://doi.org/10.1002/jgc4.1416

Article  CAS  Google Scholar 

O’Shea R, Taylor N, Crook A et al (2021) Health system interventions to integrate genetic testing in routine oncology services: a systematic review. PLoS ONE 16(5):e0250379. https://doi.org/10.1371/journal.pone.0250379

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee YQ, Yoon SY, Hassan T et al (2022) Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country. J Genet Couns 31(5):1080–1089. https://doi.org/10.1002/jgc4.1579

Article  PubMed  Google Scholar 

Hamilton JG, Symecko H, Spielman K et al (2021) Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer. Genet Med 23(11):2105–2113. https://doi.org/10.1038/s41436-021-01262-2

Article  PubMed  PubMed Central  Google Scholar 

White S, Jacobs C, Phillips J (2020) Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet Med 22(7):1149–1155. https://doi.org/10.1038/s41436-020-0785-6

Article  PubMed  Google Scholar 

Murphy AE, Hussain L, Ho C et al (2017) Preoperative panel testing for hereditary cancer syndromes does not significantly impact time to surgery for newly diagnosed breast cancer patients compared with BRCA1/2 testing. Ann Surg Oncol 24(10):3055–3059. https://doi.org/10.1245/s10434-017-5957-5

Article  PubMed  Google Scholar 

Tung N, Desai N (2021) Germline genetic testing for women with breast cancer: shifting the paradigm from whom to test to whom NOT to test. J Clin Onc 39(31):3415–3418. https://doi.org/10.1200/JCO.21.01761

Article  Google Scholar 

Hu C, Hart SN, Gnanaolivu R et al (2021) A population-based study of genes previously implicated in breast cancer. NEJM 384(5):440–451. https://doi.org/10.1056/nejmoa2005936

Article  PubMed  Google Scholar 

Dorling L, Carvalho S, Allen J et al (2021) Breast cancer risk genes—association analysis in more than 113,000 women. NEJM 384(5):428–439. https://doi.org/10.1056/nejmoa1913948

Article  CAS  PubMed  Google Scholar