Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

doi:10.1007/s10549-024-07383-x

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Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Breast cancer research and treatment - 1 Oct 2024

Faria João Paulo, Assumpção Juliana Godoy, de Oliveira Matos Lorena, Soardi Fernanda Caroline, Bretz Gabriel Pissolati Mattos, Friedman Eitan, De Marco Luiz

Abstract excerpt

PURPOSE: To define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of breast and ovarian cancer (BC, OvC) in high-risk Brazilians in Minas Gerais with health insurance, southeast Brazil, undergoing multigene panel testing (MGPT). METHODS: Genotyping eligible individuals with health insurance in the Brazilian healthcare system for...

Topics

Humans
Female
Germ-Line Mutation
Brazil
Genetic Predisposition to Disease
Middle Aged
Adult
Genetic Testing
Hereditary Breast and Ovarian Cancer Syndrome
DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ovarian Neoplasms

Aged

BRCA2 Protein

Breast Neoplasms

Genotype

BRCA1 Protein

DNA Glycosylases

Source

Open in PubMed

Identifiers

PMID: 38874686
DOI: 10.1007/s10549-024-07383-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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