High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer.
The incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%. The incidence of mutations in the Russian sampling of patients, formed without consideration for the family history, is one of the highest in European countries. Retrospective analysis showed that 9% patients carrying mutation had no family history of ovarian or breast cancer. The majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%). These data suggest the possibility and advisability of screening for mutations in the BRCA1/2 genes in patients with ovarian cancer, particularly because this population includes patients without family history of ovarian and/or breast cancer.
Smirnova
T Yu
TY
Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow.
Pospekhova
N I
NI
Lyubchenko
L N
LN
Tjulandin
S A
SA
Gar'kavtseva
R F
RF
Ginter
E K
EK
Karpukhin
A V
AV
D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D015994:Incidence; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D012189:Retrospective Studies; D012426:Russia / Q000453:epidemiology