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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific reports - 3 Nov 2022

Matta Bruna Palma, Gomes Renan, Mattos Daniel, Olicio Renata, Nascimento Caroline Macedo, Ferreira Gerson Moura, Brant Ayslan Castro, Boroni Mariana, Furtado Carolina, Lima Valdirene, Moreira Miguel Ângelo Martins, Dos Santos Anna Cláudia Evangelista

Abstract excerpt

Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment of carriers of germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent of the population is assisted by the public Unified Health System (SUS), where genetic testing is still unavailable. And few studies were performed regarding the prevalence...

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Identifiers

PMID: 36329109
DOI: 10.1038/s41598-022-23012-3
PMCID: PMC9633799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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