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Instituto Nacional de Salud Pública

2022, Number 1

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salud publica mex 2022; 64 (1)

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer

Chavarri-Guerra Y, Villarreal-Garza C, Ferrigno AS, Mohar-Betancourt A, Aguilar D, Alvarez-Gomez RM, Gallardo-Alvarado L, del Toro-Valero A, Quintero-Beulo G, Gutierrez-Delgado F, Rodriguez-Olivares JL, Ochoa-Chavez MF, Gutierrez-Seymour G, Castillo D, Herzog J, Weitzel JN

Language: English
References: 37
Page: 41-48
PDF size: 298.57 Kb.


ABSTRACT

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 costeffective than multigene panel testing.


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