Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.

Deborah Porto CotrimAdriana Regina Gonçalves RibeiroDaniele PaixãoDiogo Cordeiro de Queiroz SoaresRima JbiliNatasha Carvalho PandolfiCamila CezanaCarine de Cássia MauroHenrique MantoanGraziele BovolimLouise de BrotGiovana Tardin TorrezanDirce Maria CarraroGlauco BaiocchiMaria Nirvana da Cruz FormigaAlexandre Andre Balieiro Anastacio da Costa

Published in: BMC cancer (2019)

Prevalence of BRCA1/2 germline P and LP variants is slightly higher than previously described by the largest occidental studies, with a high prevalence of variant c.5266dupC (p.Gln1756Profs*74) in BRCA1 observed. Moreover, we identified a new LP variant.

Keyphrases

breast cancer risk
end stage renal disease
risk factors
copy number
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors
dna repair
patient reported outcomes
patient reported