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Article

Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer.

Human genomics - 14 May 2026

Morales-González Sarai, Fernández-Ramires Ricardo, Gonzalez Hugo Carlos Bolzon, Sepúlveda-Perez Alejandro E, Silva-Mundaca Ignacio A, Seccia Lorena, Campos Vinicius F, Júnior Paulo Roberto Ferreira, Dutra Mateus José, Salas-Burgos Alexis, Gischkow-Rucatti Guilherme, Morales-Pison Sebastián

Abstract excerpt

BACKGROUND: Hereditary breast cancer (BC) accounts for a significant proportion of BC cases, yet germline variant interpretation remains limited in underrepresented populations such as those from Latin America. Most available genomic reference data derive from European and North American populations, constraining variant interpretations and clinical decision-making in other regions. METHODS: We performed...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42135811
DOI: 10.1186/s40246-026-00983-2
PMCID: PMC13435756

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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