Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer

References

• Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics 2020, GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–249. doi:10.3322/caac.21660
   PubMed Web of Science ®Google Scholar
• Jordan Cancer Registry. Cancer Incidence in Jordan. Non-Communicable Diseases Directorate Ministry of Health, Jordan; 2015. Available from: https://moh.gov.jo/EN/Pages/Health_Statistics_and_Indicators. Accessed August 25, 2022.
   Google Scholar
• Chouchane L, Boussen H, Sastry KSR. Breast cancer in Arab populations: molecular characteristics and disease management implications. Lancet Oncol. 2013;14(10):e417–e424. doi:10.1016/S1470-2045(13)70165-7
   PubMed Web of Science ®Google Scholar
• El Saghir NS, Khalil MK, Eid T, et al. Trends in epidemiology and management of breast cancer in developing Arab countries, a literature and registry analysis. Int J Surg. 2007;5(4):225–233. doi:10.1016/j.ijsu.2006.06.015
   PubMedGoogle Scholar
• Larsen MJ, Thomassen M, Gerdes AM, Kruse TA. Hereditary breast cancer, clinical, pathological and molecular characteristics. Breast Cancer (Auckl). 2014;8:145–155. doi:10.4137/BCBCR.S18715
   PubMedGoogle Scholar
• Drohan B, Roche CA, Cusack JC, Hughes KS. Hereditary breast and ovarian cancer and other hereditary syndromes, using technology to identify carriers. Ann Surg Oncol. 2012;19(6):1732–1737. doi:10.1245/s10434-012-2257-y
   PubMed Web of Science ®Google Scholar
• NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). 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. Accessed September 15, 2022.
   Google Scholar
• National Collaborating Centre for Cancer (UK). 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/. Accessed December 20, 2022.
   Google Scholar
• Maxwell KN, Domchek SM. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol. 2012;9(9):520–528. doi:10.1038/nrclinonc.2012.123
   PubMed Web of Science ®Google Scholar
• Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers, results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812–822. doi:10.1093/jnci/djt095
   PubMedGoogle Scholar
• Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329–1333. doi:10.1200/JCO.2006.09.1066
   PubMed Web of Science ®Google Scholar
• Chai X, Friebel TM, Singer CF, et al. Use of risk-reducing surgeries in a prospective cohort of 1499 BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2014;148(2):397–406. doi:10.1007/s10549-014-3134-0
   PubMed Web of Science ®Google Scholar
• 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(6):1055–1062. doi:10.1200/JCO.2004.04.188
   PubMed Web of Science ®Google Scholar
• Olopade OI, Artioli G. Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations. Breast J. 2004;10:S5–S9. doi:10.1111/j.1524-4741.2004.101s3.x
   PubMedGoogle Scholar
• Eleje GU, Eke AC, Ezebialu IU, Ikechebelu JI, Ugwu EO, Okonkwo OO. Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations. Cochrane Database Syst Rev. 2018;8(8):CD012464. doi:10.1002/14651858.CD012464.pub2
   PubMedGoogle Scholar
• 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(9):967–975. doi:10.1001/jama.2010.1237
   PubMed Web of Science ®Google Scholar
• 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:10.1155/2020/8362179
   PubMed Web of Science ®Google Scholar
• Coppa A, Nicolussi A, D’Inzeo S, et al. Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families. Cancer Med. 2018;7(1):46–55. doi:10.1002/cam4.1251
   PubMed Web of Science ®Google Scholar
• Johansen Taber KA, Dickinson BD, Wilson M. The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med. 2014;174(2):275–280. doi:10.1001/jamainternmed.2013.12048
   PubMed Web of Science ®Google Scholar
• 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(19):2001–2009. doi:10.1200/JCO.2013.53.6607
   PubMed Web of Science ®Google Scholar
• Jalkh N, Nassar-Slaba J, Chouery E, et al. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract. 2012;10(1):7. doi:10.1186/1897-4287-10-7
   PubMedGoogle Scholar
• Laraqui A, Uhrhammer N, Lahlou-Amine I, et al. Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. Int J Med Sci. 2013;10(1):60–67. doi:10.7150/ijms.5014
   PubMed Web of Science ®Google Scholar
• Abdel-Razeq H, Al-Omari A, Zahran F, Arun B. Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan. BMC Cancer. 2018;18(1):152. doi:10.1186/s12885-018-4079-1
   PubMedGoogle Scholar
• Abdel-Razeq H, Tamimi F, Abujamous L, et al. Patterns and prevalence of BRCA1 and BRCA2 germline mutations among patients with triple-negative breast cancer, regional perspectives. Cancer Manag Res. 2021;13:4597–4604. doi:10.2147/CMAR.S316470
   PubMed Web of Science ®Google Scholar
• Powers B, Pal T, Laronga C. Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine. Surg Oncol Clin N Am. 2018;27(1):1–22. doi:10.1016/j.soc.2017.08.003
   PubMed Web of Science ®Google Scholar
• Jerzak KJ, Mancuso T, Eisen A. Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer, a narrative review. Curr Oncol. 2018;25(2):e176–e180. doi:10.3747/co.25.3707
   PubMed Web of Science ®Google Scholar
• Brunet J, Gutiérrez-Enríquez S, Torres A, et al. ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin Genet. 2008;73(5):465–473. doi:10.1111/j.1399-0004.2008.00987
   PubMed Web of Science ®Google Scholar
• Barsevick AM, Montgomery SV, Ruth K, et al. Intention to communicate BRCA1/BRCA2 genetic test results to the family. J Fam Psychol. 2008;22(2):303–312. doi:10.1037/0893-3200.22.2.303
   PubMed Web of Science ®Google Scholar
• MacDonald DJ, Sarna L, van Servellen G, Bastani R, Giger JN, Weitzel JN. Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment. Genet Med. 2007;9(5):275–282. doi:10.1097/gim.0b013e31804ec075
   PubMed Web of Science ®Google Scholar
• Edaily S, Abdel-Razeq H. Management strategies of breast cancer patients with BRCA1 and BRCA2 pathogenic germline variants. Onco Targets Ther. 2022;27(15):815–826. PMID, 35923470; PMCID, PMC9343017. doi:10.2147/OTT.S369844
   Google Scholar
• Tutt A, Tovey H, Cheang MCU, et al. Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups, the TNT Trial. Nat Med. 2018;24(5):628–637. doi:10.1038/s41591-018-0009-7
   PubMed Web of Science ®Google Scholar
• 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(4):558–566. doi:10.1093/annonc/mdz012
   PubMed Web of Science ®Google Scholar
• Litton JK, Hurvitz SA, Mina LA, et al. Talazoparib versus chemotherapy in patients with germline BRCA1/2-mutated HER2-negative advanced breast cancer, final overall survival results from the EMBRACA trial. Ann Oncol. 2020;31(11):1526–1535. doi:10.1016/j.annonc.2020.08.2098
   PubMed Web of Science ®Google Scholar
• Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer. N Engl J Med. 2021;384(25):2394–2405. doi:10.1056/NEJMoa2105215
   PubMed Web of Science ®Google Scholar
• Tutt A, Garber J, Gelber R, et al. VP1-2022, pre-specified event driven analysis of Overall Survival (OS) in the OlympiA Phase III trial of adjuvant olaparib (OL) in germline BRCA1/2 mutation (gBRCAm) associated breast cancer. ESMO Virtual Plenary; 2022. Available from: https://oncologypro.esmo.org/meeting-resources/esmo-virtual-plenary-resources/olympia-phase-iii-pre-specified-event-driven-analysis-of-overall-survival-of-olaparib-in-gbrcam-breast-cancer. Accessed July 21, 2022.
   Google Scholar
• 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):4274–4282. doi:10.1200/JCO.20.02151
   PubMed Web of Science ®Google Scholar
• Cohen SA, Bradbury A, Henderson V, Hoskins K, Bednar E, Arun BK. Genetic counseling and testing in a community setting, quality, access, and efficiency. Am Soc Clin Oncol Educ Book. 2019;39:e34–e44. doi:10.1200/EDBK_238937
   PubMedGoogle Scholar