Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Simone da Costa E Silva CarvalhoNathalia Moreno CuryDanielle Barbosa BrottoLuiza Ferreira de AraujoReginaldo Cruz Alves RosaLorena Alves TexeiraJessica Rodrigues PlaçaAdriana Aparecida MarquesKamila Chagas PeronniPatricia de Cássia RuyGreice Andreotti MolfettaJulio Cesar MorigutiDirce Maria CarraroEdenir Inêz PalmeroPatricia Ashton-ProllaVictor Evangelista de Faria FerrazWilson Araújo da Silva JuniorPublished in: BMC medical genomics (2020)
This study embodies the third report of a multi-gene analysis in the Brazilian population, and addresses the first report of many germline variants associated with HBOC in Brazil. Although further functional analyses are necessary to better characterize the contribution of those variants to the phenotype, these findings would improve the risk estimation and clinical follow-up of patients with HBOC clinical suspicion.