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Salud Pública de México
versión impresa ISSN 0036-3634
Resumen
CHAVARRI-GUERRA, Yanin et al. Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer. Salud pública Méx [online]. 2022, vol.64, n.1, pp.41-48. Epub 06-Mar-2023. ISSN 0036-3634. https://doi.org/10.21149/12704.
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.
Palabras llave : breast cancer; triple-negative; germline mutation; pathogenic variants; genetic cancer risk assessment; BRCA; Mexico.
