High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer

Abstract

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.

Molecular biomarkers for early detection and prevention of ovarian cancer—A gateway for good prognosis: A narrative review

“…[ 19 ] In Poland, 21 out of 151 consecutive OC patients accounted for BRCA1/2 mutations (13.9%)[ 20 ] while for 74 Russian patients, the prevalence of the BRCA1/2 mutation was 19%. [ 21 ] In Korea, BRCA1/2 mutations patients with a positive family history of ovarian cancer patients were 13 of 40 (33%) while 23 had no positive family history out of 283 patients (8%). [ 22 ]…”

Hereditary Breast-Ovarian Cancer Syndrome in Russia

“…A number of Russian studies indicate that there is a relatively high frequency of the “Jewish” BRCA1 185delAG allele in Russian patients [20, 23, 24, 26]. In contrast to the BRCA1 5382insC mutation, however, this mutation is not dominant and could be better explained by interethnic marriages.…”

“…It has been shown that non-founder mutations are much rarer in Russia than in Europe and North America [12, 18–20, 23, 33]. Given the rapidly falling costs of DNA analysis, it is logical to expect an increase in the use of BRCA1 sequencing even for the patients with low probability of cancer genetic predisposition.…”

“…In Siberia, there have been several reported cases of BRCA2 being inactivated in hereditary BC/OC patients [18]; at the same time, studies performed in Moscow revealed no connection between this gene and hereditary BC/OR in the European part of Russia [23]. Polish scientists performed comprehensive studies showing that the BRCA2 mutations contributed very little to BC and OC aetiology in Slavs [34].…”

BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management

“…In Belgium, de Leeneer et al tested 193 sporadic cases of breast and ovarian cancer for BRCA1/2, finding 3 carriers among 7 women with both breast and ovarian cancer (42.9%) but none among 6 patients with OC only [50]. In Poland, BRCA1/2 mutations were identified in 21 out of 151 consecutive OC patients (13.9%) [51], while in a sample of 74 Russian patients, the prevalence was as high as 19% [52]. In Korean OC patients, BRCA1/2 mutations were detected in 13 of 40 (33%) reporting a strong family history and in 23 of 283 (8%) without significant family history [53].…”