Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.

Renan GomesPricila da Silva SpinolaAyslan Castro BrantBruna Palma MattaCaroline Macedo NascimentoSilvia Maria de Aquino PaesCibele Rodrigues BonvicinoAnna Claudia Evangelista Dos SantosMiguel Angelo Martins Moreira

Published in: Breast cancer research and treatment (2020)

A detailed mutational profile of non-BRCA genes is still being described in Brazil. In this study, we contributed to filling this gap, by providing important data on the diversity of genetic variants in a Brazilian high-risk patient cohort. ATM, CHEK2, PALB2 and TP53 are well established as HBOC predisposition genes, and the identification of deleterious variants in such actionable genes contributes to clinical management of probands and relatives.

Keyphrases

bioinformatics analysis
genome wide
genome wide identification
ejection fraction
dna repair
newly diagnosed
dna damage
risk factors
dna methylation
oxidative stress
gene expression
clinical practice
prognostic factors
machine learning
big data
patient reported outcomes
patient reported