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The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.

European journal of human genetics : EJHG - 1 Jul 2022

de Oliveira Jarbas Maciel, Zurro Nuria Bengala, Coelho Antonio Victor Campos, Caraciolo Marcel Pinheiro, de Alexandre Rodrigo Bertollo, Cervato Murilo Castro, Minillo Renata Moldenhauer, de Vasconcelos Carvalho Neto George, Grivicich Ivana, Oliveira João Bosco

Abstract excerpt

Hereditary cancer risk syndromes are caused by germline variants, commonly in tumor suppressor genes. Most studies on hereditary cancer have been conducted in white populations. We report the largest study in Brazilian individuals with multiple ethnicities. We genotyped 1682 individuals from all country regions with Next-generation sequencing (NGS) panels. Most were women with a personal/family history of cancer,...

Topics

BRCA1 Protein
BRCA2 Protein
Brazil
Breast Neoplasms
Female
Genes, BRCA2
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Neoplastic Syndromes, Hereditary

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Open in PubMed Open full text

Identifiers

PMID: 35534704
DOI: 10.1038/s41431-022-01098-7
PMCID: PMC9259741

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

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