BRCA Mutant Meme Kanserinde Adjuvan Tedavi Yaklaşımı

Torre LA, Bray F, Siegel RL, et al. Global cancerstatistics, 2012. CA Cancer J Clin 2015;65:87–108.

Shiovitz S, Korde LA. Genetics of breastcancer: a topic in evolution. AnnOncol 2015;26:1291–9.

Hall JM, Lee MK, Newman B, et al. Linkage of early-onsetfamilialbreastcancertochromosome 17q21. Science 1990;250:1684–9.

Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breastcancersusceptibility gene, BRCA2, tochromosome 13q12-13. Science 1994;265:2088–90.

Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King

MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250: 1684–9.

Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian

S, Liu Q, Cochran C, Bennett LM, Ding W et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66–71.

Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994; 265: 2088–90.

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789–92.

Rahman N, Stratton MR. The genetics of breast cancer susceptibility. Annu Rev Genet 1998; 32: 95–121.

Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, Barfoot R, Collins N, Bignell G, Patel S, Hamoudi R, Larsson C, Wiseman RW, Berchuck A, Iglehart JD, Marks JR, Ashworth A, Stratton MR, Futreal PA. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 1996; 13: 238–40.

Scully R, Chen J, Ochs RL, Keegan K, Hoekstra M, Feunteun J, Livingston DM. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 1997; 90: 425–35.

Anders C. and Carey LA, Understanding and treating triple-negative breast cancer. Oncology (Williston Park, NY), 2008. 22(11): p. 1233.

Lehmann BD, et al. , Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. The Journal of clinical investigation, 2011. 121(7): p. 2750–2767. [PubMed: 21633166]

Bardia A, et al. , Biomarker Analyses in the Phase 3 ASCENT Study of Sacituzumab Govitecan Versus Chemotherapy in Patients with Metastatic Triple-Negative Breast Cancer. Annals of Oncology, 2021.

Chen H, et al. , Association between BRCA status and triple-negative breast cancer: a meta-analysis. Frontiers in pharmacology, 2018. 9: p. 909. [PubMed: 30186165]

Daly MB, et al. , Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology. Journal of the National Comprehensive Cancer Network, 2021. 19(1): p. 77–102. [PubMed: 33406487]

Kim G, et al. , FDA approval summary: olaparib monotherapy in patients with deleterious germline BRCA-mutated advanced ovarian cancer treated with three or more lines of chemotherapy. Clinical cancer research, 2015. 21(19): p. 4257–4261. [PubMed: 26187614]

Robson M, et al. , Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. New England Journal of Medicine, 2017. 377(6): p. 523–533. [PubMed: 28578601] • The critical clinical study led to the FDA-approved olaparib treatment in germline BRCA-mutant advanced breast cancers.

Golan T, et al. , Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer. New England Journal of Medicine, 2019. 381(4): p. 317–327. [PubMed: 31157963]

Ray-Coquard I, et al. , Olaparib plus bevacizumab as first-line maintenance in ovarian cancer. New England Journal of Medicine, 2019. 381(25): p. 2416–2428. [PubMed: 31851799]

de Bono J, et al. , Olaparib for metastatic castration-resistant prostate cancer. New England Journal of Medicine, 2020. 382(22): p. 2091–2102. [PubMed: 32343890]

Robson ME, 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): p. 558–566. [PubMed: 30689707] •• The recent critical clinical study, OlympiAD, stratified the patients who received monotherapy of olaparib or chemotherapy into subgroups based on prior chemotherapy and receptor status.

Robson M, 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. Cancer Research, 2020. 80(4 Supplement): p. PD4–03.

Mavaddat N, Barrowdale D, Andrulis IL, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012;21(1):134–147. [PubMed: 22144499]

Breast Cancer Association Consortium Mavaddat N, Dorling L, et al. Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes. JAMA Oncol. 2022;8(3):e216744. [PubMed: 35084436]

Schmid P, Cortes J, Dent R, et al. Event-free survival with pem-brolizumab in early triple-negative breast cancer. N Engl J Med. 2022;386(6):556–567. [PubMed: 35139274]

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

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(8):1132–1140. [PubMed: 31194225]

Harbeck N, Rastogi P, Martin M, et al. Adjuvant abemaciclib combined with endocrine therapy for high-risk early breast cancer: updated efficacy and Ki-67 analysis from the monarchE study. Ann Oncol. 2021;32(12):1571–1581. [PubMed: 34656740]

Kim JY, Oh JM, Park YH, et al. Which clinicopathologic parameters suggest primary resistance to palbociclib in combination with letrozole as the first-line treatment for hormone receptor-positive, HER2-negative advanced breast cancer? Front Oncol. 2021;11: 759150. [PubMed: 34745997]

Bruno L, Ostinelli A, Waisberg F, et al. Cyclin-dependent kinase 4/6 inhibitor outcomes in patients with advanced breast cancer carrying germline pathogenic variants in DNA repair-related genes. JCO Precis Oncol. 2022;6:e2100140. [PubMed: 35235412]