Pathogenic variants in <i>BRCA1</i> and <i>BRCA2</i> genes associated with female breast and ovarian cancer in the Mexican population.

ABSTRACT: Breast and ovarian cancers are significant global health challenges, with inherited variations in breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) substantially increasing the risk, aggressiveness, and early onset of these diseases. This work aimed to examine pathogenic variants (PVs) in BRCA1 and BRCA2 databases that include Mexican populations. A systematic review of literature and data mining spanning from 2002 to 2023 was conducted. Articles published in journals indexed in SCImago quartiles Q1 to Q4 were screened. Databases were paired, standardized, and enriched with data from reputable global platforms: Genome Data Viewer, dbSNP, ClinVar, gnomAD browser, Breast Cancer Information Core (BIC), ClinGen, Varsome, Human Genome Variation Society (H

SUBMITTER: Alday-Montanez FD 

PROVIDER: S-EPMC11891617 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature