Narod S, Foulkes W. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004;4:665-76.
Easton DF, Pharoah PDP, Antoniou AC, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 2015;372:2243-57.
Nielsen FC, van Overeem HT, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer 2016;16:599-612.
Dorling L, Carvalho S, Allen J. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. N Engl J Med 2021;384(5):428-39.
Schmidt MK, Hogervorst F, van Hien R, et al. Age and tumor subtype-specific breast cancer risk estimates for CHEK-2*1100delC carriers. J Clin Oncol 2016;34:2750-60.
Judkins T, Rosenthal E, Arnell C, et al. Clinical significance of large rearrangements inBRCA1andBRCA2. Cancer 2012;118(21):5210-6.
González-Santiago S, Ramón y Cajal T, Aguirre E, et al. SEOM clinical guidelines in hereditary breast and ovarian cancer (2019). Clin Transl Oncol 2020;22:193-200.
Beitsch PD, Whitworth PW, Hughes K, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 2019;37:453-60.
Leary E, Iacoboni D, Holle J, et al. Expanded gene panel use for women with breast cancer: identification and intervention beyond breast cancer risk. Ann Surg Oncol 2017;24:3060-6. 10. Mandelker D, Donoghue M, Talukdar S. Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group, Ann Oncol 2019;30(8):1221-31.
NCCN Guidelines Version 2.2022 Genetic/Familial Hig-Risk Asseement: breast, ovarian, and pancreatic.
Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017;317:2402-16.
Kuhl CK, Schrading S, Leutner CC, et al. Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol 2005;23:8469-76.
Phi XA, Saadatmand S, De Bock GH, et al. Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis. Br J Cancer 2016;114:631-7.
Narod SA, Lubinski J, Ghadirian P, et al. Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol 2006;7:402-6.
Tung N, Domchek SM, Stadler Z, et al. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 2016;13:581-8.
Lee A, Mavaddat N, Wilcox AN, et al. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med 2019;21:1708-18.
Choudhury PP, Brook MN, Wilcox AN, et al. Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population based prospective cohort. medRxiv 2020;2020.04.27.20081265.
Lakeman IMM, Rodríguez-Girondo M, Lee A, et al. Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort. GenetMed 2020;22:1803-11.
Oh M, McBride A, Yun S, et al. BRCA1 and BRCA2 gene mutations and colorectal cancer risk: systematic review and meta-analysis. J Natl Cancer Inst 2018;110(11):1178-89.
Dbouk M, Katona BW, Brand RE, et al. The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival. J Clin Oncol 2022;Jun 15:2200298.
Ludwig KK, Neuner J, Butler A, et al. Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, asystematic review. Am J Surg 2016;212(4):660-9.
Li X, You R, Wang X, et al. Effective ness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: a meta-analysis and systematic review. Clin Cancer Res 2016;22:3971-81.
Heemskerk-Gerritsen B, Jager A, Koppert LB, et al. Survival after bilateral risk reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2019;177:723-33.
Carbine NE, Lostumbo L, Wallace J, et al. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev 2018;4(4):CD002748.
Jakub JW, Peled AW, Gray RJ, et al. Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study. JAMA Surg 2018;153(2):123-9.
Tung N, Domchek SM, Stadler Z, et al. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 2016;13:581-8.
Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009;101(2):80-7.
Finch AP, Lubinski J, Moller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 2014;32:1547-53.
Xiao YL, Wang K, Liu Q, et al. Risk reduction and survival benefit of risk-reducing salpingo-oophorectomy in hereditary breast cancer: meta-analysis and systematic review. Clin Breast Cancer 2019;19(1):e48-e65.
Harmsen MG, Piek JMJ, Bulten J, et al. Peritoneal carcinomatosis after risk-reducing surgery in BRCA1/2 mutation carriers. Cancer 2018;124:952-9.
Eisen A, Lubinski J, Klijn J, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005;23:7491-6.
Heemskerk-Gerritsen BA, Seynaeve C, van Asperen CJ, et al. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer Inst 2015;107.
Terry MB, Daly MB, Phillips KA, et al. Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk. J Natl Cancer Inst 2019;111:331-4.
Stjepanovic N, Villacampa G, Nead KT, et al. Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: maximising bias-reduction. Eur J Cancer 2020;132:53-60.
Choi YH, Terry MB, Daly MB, et al. Association of risk-reducing salpingo-oophorectomy with breast cancer risk in women with BRCA1 and BRCA2 pathogenic variants. JAMA Oncol 2021;7:585-92.
Domchek SM, Robson ME. Update on Genetic Testing in Gynecologic Cancer. J Clin Oncol. 2019 Sep 20;37(27):2501-250918. National Comprehensive Cancer Network (NCCN). NCCN Clinical practice guidelines in oncology. Genetic/familial high-risk assessment: breast and ovarian. Version 3. 2019.
King M, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in brca1 and brca2: national surgical adjuvant breast and bowel project (NSABP-P1) breast cancer prevention trial. JAMA 2001;286(18):2251-6.
Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2013;31:3091-9.
Pujol P, Roca L, Lortholary A, et al. Five year letrozole versus placebo in BRCA1/2germline mutations carriers: Final results of LIBER, a double-blind randomized phase III breast cancer prevention trial. J Clin Oncol 2020;38(15):1534-1534.
Kotsopoulos J, Lubinski J, Moller P, et al. Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. Breast Cancer Res Treat 2014;143(3):579-86.
Iodice S, Barile M, Rotmensz N, et al. Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer 2010;46:2275-84.
Moorman PG, Havrilesky LJ, Gierisch JM, et al. Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic reviewand meta-analysis. J Clin Oncol 2013;31:4188-98.
Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, et al. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer 2015;136(3):668-77.
Poggio F, Bruzzone M, Ceppi M, et al. Platinum-based neoadjuvant chemotherapy in triple-negative breast cancer: a systematic review and meta-analysis. Ann Oncol 2018;29:1497-508.
Tutt A, Tovey H, Chon U, et al. A randomised phase III trial of carboplatin compared with docetaxel in BRCA1/2 mutated and pre-specified triple negative breast cancer “BRCA-ness” subgroups: the TNT Trial. Nat Med 2018;24(5):628-37.
Robson M, Im SA, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 2017;377:523-33.
Litton JK, Rugo HS, Ettl J, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med 2018;379:753-63.
Tung NM, Robson ME, Ventz S, et al. TBCRC 048: phase II study of olaparib for metastatic breast cancer and mutations in homologous recombination-related genes. J Clin Oncol 2020;38(36):4274-82.
Mateo J, Lord CJ, Serra V, et al. A decade of clinical development of PARP inhibitors in perspective. Ann Oncol 2019;30:1437-47.
Tutt NJ, Garber JE, Kaufman B et al. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med 2021;384:2394-405.
Vinayak S, Tolaney SM, Schwartzberg L, et al. Open-label clinical trial of niraparib combined with pembrolizumab for treatment of advanced or metastatic triple-negative breast cancer. JAMA Oncol 2019;5:1132-40.
Domchek SM, Postel-Vinay S, Im SA, et al. Phase II study of olaparib (O) and durvalumab (D) (MEDIOLA): updated results in patients (pts) with germline BRCA-mutated (gBRCAm) metastatic breast cancer (MBC). Ann Oncol 2019;30(Suppl 5):v477.
Dieras VC, Han HS, Kaufman B, Wildiers H et al. Phase III study of veliparib with carboplatin and paclitaxel in HER2-negative advanced/metastatic gBRCA-associated breast cancer. Ann Oncol 2019;30(Suppl.5):v8557-8.
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