Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250(4988):1684–9.

Article  CAS  PubMed  Google Scholar 

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25–33.

Article  CAS  PubMed  Google Scholar 

LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014;16(11):830–7.

Article  PubMed  PubMed Central  Google Scholar 

Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guo F, Hirth JM, Lin YL, Richardson G, Levine L, Berenson AB, et al. Use of BRCA mutation test in the US, 2004–2014. Am J Prev Med. 2017;52(6):702–9.

Article  PubMed  PubMed Central  Google Scholar 

•• Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377(6):523–33. Describes the clinical trial that brought PARP inhibitors to the forefront in patients with metastatic breast cancer with germline BRCA mutation. This has since become standard of care.

Article  CAS  PubMed  Google Scholar 

•• Litton JK, Rugo HS, Ettl J, Hurvitz SA, Gonçalves A, Lee KH, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med. 2018;379(8):753–63. Describes the clinical trial that re-demonstrated use of a different PARP inhibitor in patients with germline BRCA mutation and advanced breast cancer.

Article  CAS  PubMed  Google Scholar 

•• Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, et al. Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer. N Engl J Med. 2021;384(25):2394–405. Describes the clinical trial that demonstrated use of PARP inhibitors in early breast cancer patients with germline mutation testing.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol [Internet]. 2017 Aug 18 [cited 2022 Apr 8]; Available from: https://ascopubs.org/doi/pdf/https://doi.org/10.1200/JCO.2017.73.6314

Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women. N Engl J Med. 2021 ;384(5):428–39.

Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, et al. A population-based study of genes previously implicated in breast cancer. N Engl J Med. 2021;384(5):440–51.

Article  PubMed  PubMed Central  Google Scholar 

Stoll J, Rosenthal E, Cummings S, Willmott J, Bernhisel R, Kupfer SS. No evidence of increased risk of breast cancer in women with Lynch syndrome identified by multigene panel testing. JCO Precis Oncol. 2020;4:51–60.

Article  PubMed  Google Scholar 

•• Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology in: Journal of the National Comprehensive Cancer Network Volume 19 Issue 1 (2021) [Internet]. [cited 2022 Apr 8]. Available from: https://jnccn.org/view/journals/jnccn/19/1/article-p77.xml. This is the most widely used criteria for germline genetic testing in patients with breast cancer.

US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652–65.

Article  Google Scholar 

Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. 2019;47.

Evans D, Eccles D, Rahman N, Young K, Bulman M, Amir E, et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004;41(6):474–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoskins KF, Zwaagstra A, Ranz M. Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer. 2006;107(8):1769–76.

Article  PubMed  Google Scholar 

Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, et al. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009;9(1):283.

Article  PubMed  PubMed Central  Google Scholar 

Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ, et al. Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA. 2017;317(5):531–4.

Article  PubMed  PubMed Central  Google Scholar 

Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019;37(15):1305–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McCarthy AM, Bristol M, Domchek SM, Groeneveld PW, Kim Y, Motanya UN, et al. Health care segregation, physician recommendation, and racial disparities in BRCA1/2 testing among women with breast cancer. J Clin Oncol. 2016;34(22):2610–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Knerr S, Bowles EJA, Leppig KA, Buist DSM, Gao H, Wernli KJ. Trends in BRCA test utilization in an integrated health system, 2005–2015. JNCI J Natl Cancer Inst. 2019;111(8):795–802.

Article  PubMed  Google Scholar 

Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37(6):453–60.

Article  PubMed  Google Scholar 

Yadav S, Hu C, Hart SN, Boddicker N, Polley EC, Na J, et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol. 2020;38(13):1409–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–16.

Article  CAS  PubMed  Google Scholar 

Kaas R, Verhoef S, Wesseling J, Rookus MA, Oldenburg HSA, Peeters MJV, et al. Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: very low risk for subsequent breast cancer. Ann Surg. 2010;251(3):488–92.

Article  PubMed  Google Scholar 

Metcalfe K, Gershman S, Ghadirian P, Lynch HT, Snyder C, Tung N, et al. Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ. 2014;11(348):g226.

Article  Google Scholar 

Lokich E, Stuckey A, Raker C, Wilbur JS, Laprise J, Gass J. Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecol Oncol. 2014;134(2):326–30.

Article  PubMed  Google Scholar 

Yadav S, Jinna S, Pereira-Rodrigues O, et al. Impact of preoperative BRCA1/2 testing on surgical decision making in patients with newly diagnosed breast cancer. Breast J. 2018;24(4):541–8. https://doi.org/10.1111/tbj.13007.

Article  PubMed  Google Scholar 

Milliron KJ, Griggs JJ. Advances in genetic testing in patients with breast cancer, high-quality decision making, and responsible resource allocation. J Clin Oncol [Internet]. 2018 Dec 7 [cited 2022 May 26]; Available from: https://ascopubs.org/doi/pdf/10.1200/JCO.18.01952

Sun L, Brentnall A, Patel S, Buist DSM, Bowles EJA, Evans DGR, et al. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 2019;5(12):1718–30.

Article  PubMed Central  Google Scholar 

Murphy BL, Yi M, Arun BK, Gutierrez Barrera AM, Bedrosian I. Contralateral risk reducing mastectomy in breast cancer patients who undergo multi-gene panel testing. Ann Surg Oncol. 2020;27(12):4613–21.

Article  PubMed  PubMed Central  Google Scholar 

Domchek SM, Brower J, Symecko H, Marcell V, Walsh MF, Hamilton JG, et al. Uptake of oophorectomy in women with findings on multigene panel testing: results from the Prospective Registry of Multiplex Testing (PROMPT). J Clin Oncol. 2020;38(15_suppl):1508–1508.

Article  Google Scholar 

Barchiesi G, Roberto M, Verrico M, Vici P, Tomao S, Tomao F. Emerging role of PARP inhibitors in metastatic triple negative breast cancer Current Scenario and Future Perspectives. Front Oncol. 2021;11:769280.

Article  PubMed  PubMed Central  Google Scholar 

Lord CJ, Ashworth A. The DNA damage response and cancer therapy. Nature. 2012;481(7381):287–94.

Article  CAS  PubMed  Google Scholar 

Moynahan ME, Pierce AJ, Jasin M. BRCA2 is required for homology-directed repair of chromosomal Breaks. Mol Cell. 2001;7(2):263–72.

Article  CAS  PubMed  Google Scholar 

Galluzzi L, Senovilla L, Vitale I, Michels J, Martins I, Kepp O, et al. Molecular mechanisms of cisplatin resistance. Oncogene. 2012;31(15):1869–83.

Article  CAS  PubMed  Google Scholar 

Bhattacharyya A, Ear US, Koller BH, Weichselbaum RR, Bishop DK. The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J Biol Chem. 2000;275(31):23899–903.

Article  CAS  PubMed  Google Scholar 

Garutti M, Pelizzari G, Bartoletti M, Malfatti MC, Gerratana L, Tell G, et al. Platinum salts in patients with breast cancer: a focus on predictive factors. Int J Mol Sci. 2019;20(14):3390.

Article  CAS  PubMed Central  Google Scholar 

Tutt A, Tovey H, Cheang MCU, Kernaghan S, Kilburn L, Gazinska P, et al. A randomised phase III trial of carboplatin compared with docetaxel in BRCA1/2 mutated and pre-specified triple negative breast cancer “BRCAness” subgroups: the TNT Trial. Nat Med. 2018;24(5):628–37.

Article  CAS  PubMe