What mutations of BRCA genes are founf in Russia?

What mutations of BRCA genes are found in Russia?

The spectrum of mutations in BRCA genes predisposing to familial breast cancer differs between countries and ethnic groups. Currently several groups in Russia, including teams in St. Petersburg, Moscow and Tomsk, conduct the investigations that allowed to identify several mutations in BRCA1 and BRCA2 genes predisposing to cancer in Russia. It was shown in these studies that mutation 5382insC in BRCA1 gene may be the most common mutation predisposing to familial breast and ovary cancer in different regions of Russia and that this mutation can be found in different ethnic groups. It is necessary to point out, that there are some mutations specific only for some ethnic groups.

Two mutations, 185delAG in BRCA1 gene and 6174delT in BRCA2 gene, are common in the Ashkenazi Jews and these mutations can be only rarely found in most other ethnic groups. Combined the carrier frequency for 185delAG mutation in BRCA1 gene and 6174delT mutation in BRCA2 gene approximates 2% of the overall Ashkenazi Jewish population. In general, the overall incidence of breast cancer due to the BRCA genes mutations is higher in the Ashkenazi Jews than in other ethnic groups.

Gene Mutation Number of
families Ethnicity of patients Localization of
cancer Reference

BRCA1 5382insC 9 Russian (Slavic) and Ashkenazi Jewish from Moscow, Russian from Moscow Reg. and from Ukraine, Belorussian from Belorussia, Tatarian from Azerbaidjan 23 cases of ovary cancer, 3 cases of breast cancer 4, 5

BRCA1 5382insC 4 Russian (Slavic) and Ashkenazi Jewish from St. Petersburg, Russia Breast cancer 2, 3

BRCA1 5382insC 3 Russian (Slavic) from Siberia Breast cancer 6

BRCA1 4153delA 3 Russian (Slavic) from Moscow and Moscow Reg. Ovary cancer 4, 5

BRCA1 948Fs,
g.36045del10nt 1 Russian (Slavic) from St. Petersburg 1 case of ovary cancer, 1 case of breast cancer 1

BRCA1 3875del4 1 Russian from Moscow Reg. Ovary cancer 4, 5

BRCA1 M1628T 1 Russian from Irkutsk, Siberia Ovary cancer 4, 5

BRCA1 2073delA 1 Russian from Moscow Ovary cancer 4, 5

BRCA2 6174delT 1 Ashkenazi Jewish from St. Petersburg no disease 2

695insT 1 Russian from Siberia Breast cancer 6

1528del4 1 Russian from Siberia Breast cancer 6

9318del4 1 Russian from Siberia Breast cancer 6

S1099X 1 Russian from Siberia Breast cancer 6

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