Open AccessGermline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer
Author(s) -
Yanin ChávarriGuerra,
Cynthia VillarrealGarza,
Ana S. Ferrigno,
Alejandro Mohar,
Dione Aguilar,
Rosa María Álvarez-Gómez,
Lenny Gallardo-Alvarado,
Azucena Del Toro-Valero,
Gregorio Quintero-Beuló,
F. Gutiérrez-Delgado,
José Luis Rodríguez-Olivares,
Maria Fernanda Ochoa-Chavez,
Gubidxa Gutierrez-Seymour,
Danielle Castillo,
Josef Herzog,
Jeffrey N. Weitzel
Publication year - 2022
Publication title -
salud pública de méxico/salud pública de méxico
Language(s) - English
Resource type - Journals
eISSN - 1606-7916
pISSN - 0036-3634
DOI - 10.21149/12704
Subject(s) - palb2 , medicine , triple negative breast cancer , germline , oncology , genetic testing , breast cancer , germline mutation , triple negative , cancer , genetics , gene , biology , mutation
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.