Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer
DOI:
https://doi.org/10.21149/12704Palabras clave:
breast cancer, triple-negative, germline mutation, pathogenic variants, genetic cancer risk assessment, BRCAResumen
Objective. Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods. The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. Results. Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. Conclusion. A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.
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Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, 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. https://doi.org/10.3322/caac.21660
Instituto Nacional de Estadística y Geografía. Comunicado de prensa núm. 462/20 15 de octubre de 2020 página 1/2 estadísticas a propósito del día mundial de la lucha contra el cáncer de mama (19 de octubre) [Internet]. Mexico City: INEGI, 2020 [Accessed March 8, 2021]. Available from: https://www.inegi.org.mx/contenidos/saladeprensa/aproposito/2020/Cancermama20.pdf
Chávarri-Guerra Y, Villarreal-Garza C, Liedke PER, Knaul F, Mohar A,Finkelstein D, Goss PE. Breast cancer in Mexico: A growing challenge to health and the health system. Lancet Oncol. 2012;13(8):e335-43. https://doi.org/10.1016/S1470-2045(12)70246-2
Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2020. https://doi.org/10.1007/s12282-020-01148-2
Shiovitz S, Korde L. Genetics of breast cancer: a topic in evolution. Ann Oncol. 2015;26(7):1291-1299. https://doi.org/10.1093/annonc/mdv022
Apostolou P, Fostira F. Hereditary breast cancer: The Era of new susceptibility genes. Biomed Res Int. 2013;2013:747318. https://doi.org/10.1155/2013/747318
Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, et al. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res. 2014;16(6):3419. https://doi.org/10.1186/s13058-014-0474-y
Tung NM, Garber JE. BRCA1/2 testing: Therapeutic implications for breast cancer management. Br J Cancer. 2018;119(2):141-152. https://doi.org/10.1038/s41416-018-0127-5
Kurian AW, Katz SJ. Emerging opportunity of cascade genetic testing for population-wide cancer prevention and control. J Clin Oncol. 2020;38(13):1371-4. https://doi.org/10.1200/JCO.20.00140
National Comprehensive Cancer Network. Genetic/Familiar High-Risk Assessment: Breast, Ovarian, and Pancreas Version 2 [Internet]. NCCN, 2020 [accessed March 8, 2021]. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Chavarri-Guerra Y, Blazer KR, Weitzel JN. Genetic cancer risk assessment for breast cancer in Latin America. Rev Investig Clin. 2017;69(2):94-102. https://doi.org/10.24875/RIC.17002195
Blazer KR, Chavarri-Guerra Y, Garza CV, Nehoray B, Mohar A, Daneri-Navarro A, et al. Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico. JCO Glob Oncol. 2021;7:992-1002. https://doi.org/10.1200/GO.20.00587
Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, et al. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015;121(3):372-8. https://doi.org/10.1002/cncr.29058
Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Llacuachaquie M, Sifuentes E, Magallanes-Hoyos MC, et al. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat. 2015;150(2):389-94. https://doi.org/10.1007/s10549-015-3312-8
Zayas-Villanueva OA, Campos-Acevedo LD, Lugo-Trampe JDJ, Hernández-Barajas D, González-Guerrero JF, Noriega-Iriondo MF, et al. Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: A case-control study. BMC Cancer. 2019;19(1):722. https://doi.org/10.1186/s12885-019-5950-4
Reynoso-Noverón N, Villarreal-Garza C, Soto-Perez-de-Celis E, Arce-Salinas C, Matus-Santos J, Ramírez-Ugalde MT, et al. Clinical and epidemiological profile of breast cancer in Mexico: results of the Seguro Popular. J Glob Oncol. 2017;3(6):757-64. https://doi.org/10.1200/jgo.2016.007377
Lara-Medina F, Pérez-Sánchez V, Saavedra-Pérez D, Blake-Cerda M, Arce C, Motola-Koba D, et al. Triple-negative breast cancer in Hispanic patients: High prevalence, poor prognosis, and association with menopausal status, body mass index, and parity. Cancer. 2011;117(16):3658-69. https://doi.org/10.1002/cncr.25961
Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, RickerChelsy C, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: A report from the clinical cancer genetics community research network. J Clin Oncol. 2013;31(2):210-16. https://doi.org/10.1200/JCO.2011.41.0027
Hahnen E, Hauke J, Engel C, Neidhardt G, Rhiem K, Schmutzler RK. Germline mutations in triple-negative breast cancer. Breast Care. 2017;12(1):15-19. https://doi.org/10.1159/000455999
Stevens KN, Vachon CM, Couch FJ. Genetic susceptibility to triplenegative breast cancer. Cancer Res. 2013;73(7):2025-30. https://doi.org/10.1158/0008-5472.CAN-12-1699
Couch FJ, Hart SN, Sharma P, Tikabd AE, Wang X, Miron P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triplenegative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015;33(4):304-311. https://doi.org/10.1200/JCO.2014.57.1414
Sun J, Meng H, Yao L,Lv M, Bai J, Zhang J, et al. Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients. Clin Cancer Res. 2017;23(20):6113-6119. https://doi.org/10.1158/1078-0432.CCR-16-3227
Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, et al. Triplenegative breast cancer risk genes identified by multigene hereditary cancer panel testing. J Natl Cancer Inst. 2018;110(8):855-62. https://doi.org/10.1093/jnci/djy106
Ma D, Chen S-Y, Ren J-X, Pei J-C, Jiang C-W, Zhao S, et al. Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer. JNCI J Natl Cancer Inst. 2021;113(7):884-92. https://doi.org/10.1093/jnci/djaa175
Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, et al. Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 2013;20(10):3254-3258. https://doi.org/10.1245/s10434-013-3205-1
Barcenas CH, Shafaee MN, Sinha AK, Raghavendra A, Saigal B, Murthy R, et al. Genetic counseling referral rates in long-term survivors of triple-negative breast cancer. JNCCN J Natl Compr Cancer Netw. 2018;16(5):518-24. https://doi.org/10.6004/jnccn.2018.7002
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. https://doi.org/10.1056/nejmoa2005936
Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk hispanic families. Cancer Epidemiol Biomarkers Prev. 2007;16(8):1615-20. https://doi.org/10.1158/1055-9965. EPI-07-0198
Vilalta A. Hispanic population: forgotten hereditary breast and ovarian cancer high risk group? J Investig Genomics. 2015;2(3):70-72. https://doi.org/10.15406/jig.2015.02.00028
Vega A, Campos B, Bressac-de-Paillerets B, Bond PM, Janin N, Douglas FS, et al. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001;17(6):520-1. https://doi.org/10.1002/humu.1136
Porchia LM, González-Mejia E, Calderilla-Barbosa L, Ordaz-Diaz N, Islas-Lugo F, Oldak J, et al. Common BRCA1 and BRCA2 mutations among Latin American breast cancer subjects: a meta-analysis. J Carcinog Mutagen. 2015;6(3):1000228. https://doi.org/10.4172/2157-2518.1000228
Breast Cancer Association Consortium. Breast cancer risk genes — association analysis in more than 113,000 women. N Engl J Med. 2021;384(5):428-39. https://doi.org/10.1056/NEJMoa1913948
Yi D, Xu L, Luo J, You X, Huang T, Zi Y, et al. Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study. Hum Genomics. 2019;13(1):4. https://doi.org/10.1186/s40246-018-0186-y
Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, et al. Breast cancer phenotype in women with TP53 germline mutations: A Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012;133(3):1125-30. https://doi.org/10.1007/s10549-012-1993-9
Blatnik A, Banjac M, Strojnik K, Hotujec S, Stegel V, Škerl P, et al. Prevalence of BRCA1/2 pathogenic variants in triple negative breast cancer patients stratified according to age at diagnosis. J Clin Oncol. 2020;38(15 suppl):e13677-e13677. https://doi.org/10.1200/jco.2020.38.15_suppl.e13677
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Skye HC, et al. Germline breast cancer susceptibility gene mutations and breast cancer outcomes. BMC Cancer. 2018;18(1):315. https://doi.org/10.1186/s12885-018-4229-5
Fragoso-Ontiveros V, Velázquez-Aragón JA, Nuñez-Martínez PM, Mejía-Aguayo M, Vidal-Millán S, Pedroza-Torres A, et al. Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients. PLoS One. 2019;14(9). https://doi.org/10.1371/journal.pone.0222709
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