Bray F, Ferlay J, Soerjomataram I, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018;68:394-424. DOI: https://doi.org/10.3322/caac.21492
Drohan B, Roche CA, Cusack JC Jr, Hughes KS. Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers. Ann Surg Oncol 2012;19:1732-7. DOI: https://doi.org/10.1245/s10434-012-2257-y
Pharoah PDP, Antoniou A, Bobrow M, et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002;31:33-6. DOI: https://doi.org/10.1038/ng853
Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250:1684-9. DOI: https://doi.org/10.1126/science.2270482
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) [cited 2021 Dec 23]. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 2.2021. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
National Collaborating Centre for Cancer (UK) [cited 2021 Jan 10]. Familial Breast Cancer: Classification and Care of People at Risk of Familial Breast Cancer and Management of Breast Cancer and Related Risks in People With a family History of Breast Cancer. Cardiff (UK): National Collaborating Centre for Cancer (UK); 2013. Available from: https://www.ncbi.nlm.nih.gov/books/NBK247567/
Yadav S, Couch FJ. Germline genetic testing for breast cancer risk: The past, present, and future. Am Soc Clin Oncol Educ Book 2019;39:61-74. DOI: https://doi.org/10.1200/EDBK_238987
Johansen Taber KA, Dickinson BD, Wilson M. The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med 2014;174:275-80. DOI: https://doi.org/10.1001/jamainternmed.2013.12048
Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 2014; 32:2001-9. DOI: https://doi.org/10.1200/JCO.2013.53.6607
Maxwell KN, Domchek SM. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol 2012;9:520-8. DOI: https://doi.org/10.1038/nrclinonc.2012.123
Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967-75. DOI: https://doi.org/10.1001/jama.2010.1237
Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055-62. DOI: https://doi.org/10.1200/JCO.2004.04.188
Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616-22. DOI: https://doi.org/10.1056/NEJMoa012158
Moyer VA, U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2014;160:271-81. DOI: https://doi.org/10.7326/M13-2747
The American Society of Breast Surgeons. Consensus Guideline on Genetic Testing for Hereditary Breast Cancer (2019) [cited 2020 Dec 23]. Available from: https://www.breastsurgeons.org/docs/statements/Consensus-Guideline-on-Genetic-Testing-for-Hereditary-Breast-Cancer.pdf
King M-C, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA 2014; 312:1091-2. DOI: https://doi.org/10.1001/jama.2014.12483
Robson M, Im S-A, Senkus E, et al. Abstract PD4-03: OlympiAD extended follow-up for overall survival and safety: Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. In: Poster Spotlight Session Abstracts. American Association for Cancer Research; 2020. DOI: https://doi.org/10.1158/1538-7445.SABCS19-PD4-03
Robson ME, Tung N, Conte P, et al. OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Ann Oncol 2019;30:558-66. DOI: https://doi.org/10.1093/annonc/mdz012
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. DOI: https://doi.org/10.1056/NEJMoa1802905
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;38:4274-82. DOI: https://doi.org/10.1200/JCO.20.02151
Levy-Lahad E, Lahad A, King M-C. Precision medicine meets public health: population screening for BRCA1 and BRCA2. J Natl Cancer Inst 2015;107:420. DOI: https://doi.org/10.1093/jnci/dju420
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 2017;35:3800-6. DOI: https://doi.org/10.1200/JCO.2017.73.6314
Manchanda R, Blyuss O, Gaba F, et al. Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population. J Med Genet 2018;55:538-45. DOI: https://doi.org/10.1136/jmedgenet-2017-105195
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. DOI: https://doi.org/10.1200/JCO.18.01631
Manchanda R, Burnell M, Gaba F, et al. Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes. BJOG 2020;127:364-75. DOI: https://doi.org/10.1111/1471-0528.15905
Manchanda R, Loggenberg K, Sanderson S, et al. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst 2015;107:379. DOI: https://doi.org/10.1093/jnci/dju379
Manchanda R, Legood R, Burnell M, et al. Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing. J Natl Cancer Inst 2015;107:380. DOI: https://doi.org/10.1093/jnci/dju380
UK NSC Criteria for appraising the viability, effectiveness and appropriateness of a screening programme: UK National screening committee [cited 2021 Jan 10]. Available from: https://www.gov.uk/government/publications/evidence-review-criteria-nationalscreening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screeningprogramme
Khoury MJ, McCabe LL, McCabe ERB. Population screening in the age of genomic medicine. N Engl J Med 2003;348:50-8. DOI: https://doi.org/10.1056/NEJMra013182
Akbari MR, Gojska N, Narod SA. Coming of age in Canada: a study of population-based genetic testing for breast and ovarian cancer. Curr Oncol 2017;24:282-3. DOI: https://doi.org/10.3747/co.24.3828
Evans O, Gaba F, Manchanda R. Population-based genetic testing for Women’s cancer prevention. Best Pract Res Clin Obstet Gynaecol 2020;65:139-53. DOI: https://doi.org/10.1016/j.bpobgyn.2020.02.007
Parker WH, Feskanich D, Broder MS, et al. Long-term mortality associated with oophorectomy compared with ovarian conservation in the nurses’ health study. Obstet Gynecol Surv 2013;68:561-3. DOI: https://doi.org/10.1097/01.ogx.0000433842.26579.00
Wentzensen N, Wacholder S. From differences in means between cases and controls to risk stratification: A business plan for biomarker development. Cancer Discov 2013;3:148-57. DOI: https://doi.org/10.1158/2159-8290.CD-12-0196
LaDuca H, Stuenkel AJ, Dolinsky JS, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2000 patients. Genet Med 2014;16:830-7. DOI: https://doi.org/10.1038/gim.2014.40
Maxwell KN, Wubbenhorst B, D’Andrea K, et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med 2015;17:630-8. DOI: https://doi.org/10.1038/gim.2014.176
Lincoln SE, Kobayashi Y, Anderson MJ, et al. A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients. J Mol Diagn 2015;17:533-44. DOI: https://doi.org/10.1016/j.jmoldx.2015.04.009
O’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. DOI: https://doi.org/10.1245/s10434-017-5963-7
Manchanda R, Sun L, Patel S, et al. Economic evaluation of population-based BRCA1/BRCA2 mutation testing across multiple countries and health systems. Cancers (Basel) 2020;12:1929. DOI: https://doi.org/10.3390/cancers12071929
Sun L, Brentnall A, Patel S, et al. A Cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol 2019;5:1718-30. DOI: https://doi.org/10.1001/jamaoncol.2019.3323
Manchanda R, Patel S, Gordeev VS, et al. Cost-effectiveness of population-based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 mutation testing in unselected general population women. J Natl Cancer Inst 2018;110:714-25. DOI: https://doi.org/10.1093/jnci/djx265
Abdel-Razeq H, Abujamous L, Jadaan D. Patterns and prevalence of germline BRCA1 and BRCA2 mutations among high-risk breast cancer patients in Jordan: A study of 500 patients. J Oncol 2020;2020:8362179. DOI: https://doi.org/10.1155/2020/8362179
Yurgelun MB, Hiller E, Garber JE. Population-wide screening for germline BRCA1 and BRCA2 mutations: too much of a good thing? J Clin Oncol 2015;33:3092e5. DOI: https://doi.org/10.1200/JCO.2015.60.8596
Hall MJ, Olopade OI. Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol 2006;24:2197-203. DOI: https://doi.org/10.1200/JCO.2006.05.5889
Samadder NJ, Riegert-Johnson D, Boardman L, et al. Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome. JAMA Oncol 2020;30:e206252.
Cragun D, Kinney AY, Pal T. Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing. Expert Rev Mol Diagn 2017;17:57-70. DOI: https://doi.org/10.1080/14737159.2017.1267567
Landsbergen K, Verhaak C, Kraaimaat F, Hoogerbrugge N. Genetic uptake in BRCA-mutationfamilies is related to emotional and behavioral communication characteristics of index patients. Fam Cancer 2005;4:115-9. DOI: https://doi.org/10.1007/s10689-004-7991-2
Finlay E, Stopfer JE, Burlingame E, et al. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genet Test 2008;12:81-91. DOI: https://doi.org/10.1089/gte.2007.0037
Chopra I, Kelly KM. Cancer risk information sharing: The experience of individuals receiving genetic counseling for BRCA1/2 mutations. J Health Commun 2017;22:143-52. DOI: https://doi.org/10.1080/10810730.2016.1258743
Elrick A, Ashida S, Ivanovich J, et al. Psychosocial and clinical factors associated with family communication of cancer genetic test results among women diagnosed with breast cancer at a young age. J Genet Couns 2017;26:173-81. DOI: https://doi.org/10.1007/s10897-016-9995-0
Lipton JH, Zargar M, Warner E, et al. Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations. Hum Reprod 2020;35:434-45. DOI: https://doi.org/10.1093/humrep/dez203
Vuković P, Peccatori FA, Massarotti C, et al. Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants. Crit Rev Oncol Hematol 2021;157:103201. DOI: https://doi.org/10.1016/j.critrevonc.2020.103201
Derks-Smeets IAP, Gietel-Habets JJG, Tibben A, et al. Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer. Hum Reprod 2014;29:1103-12. DOI: https://doi.org/10.1093/humrep/deu034
Comments (0)