Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
José Luis Buleje SonoMaria Guevara-FujitaOscar AcostaFrancia D P HuamanPierina DanosAlexis MurilloJoseph A PintoJhajaira M AraujoAlfredo AguilarJaime PonceCarlos VigilCarlos CastanedaGabriela CalderonHenry L GomezRicardo FujitaPublished in: Molecular genetics & genomic medicine (2017)
This is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.