Hereditary Breast-Ovarian Cancer Syndrome in Russia

作者：Sokolenko A P; Iyevleva A G; Mitiushkina N V; Suspitsin E N; Preobrazhenskaya E V; Kuligina E Sh; Voskresenskiy D A; Lobeiko O S; Krylova N Yu; Gorodnova T V; Buslov K G; Bit Sava E M; Dolmatov G D; Porhanova N V; Polyakov I S; Abysheva S N; Katanugina A S; Baholdin D V; Yanus G A; Togo A V; Moiseyenko V M; Maximov S Ya; Semiglazov V F; Imyanitov E N^*

来源：Acta Naturae, 2010, 2(4): 31-35.

DOI：10.32607/20758251-2010-2-4-31-35

• breast cancer
• ovarian cancer
• hereditary cancer syndromes
• BRCA1
• CHEK2
• NBS

Hereditary breast-ovarian cancer syndrome contributes to as much as 5-7% of breast cancer (BC) and 10-15% of ovarian cancer (OC) incidence. Mutations in the "canonical" genes BRCA1 and BRCA2 occur in 20-30% of affected pedigrees. In addition to BRCA1 and BRCA2 mutations, germ-line lesions in the CHEK2, NBS1, and PALB2 genes also contribute to familial BC clustering. The epidemiology of hereditary breast-ovarian cancer in Russia has some specific features. The impact of the "founder" effect is surprisingly remarkable: a single mutation, BRCA1 5382insC, accounts for the vast majority of BRCA1 defects across the country. In addition, there are two other recurrent BRCA1 alleles: BRCA1 4153delA and BRCA1 185delAG. Besides BRCA1, in Russia breast cancer is often caused by germ-line alterations in the CHEK2 and NBS 1 genes. In contrast to BRCA1 and BRCA2, the CHEK2 and NBS1 heterozygosity does not significantly increase the OC risk. Several Russian breast cancer clinics recently started to investigate the efficacy of cisplatin in the therapy of BRCA1-related cancers; initial results show a unique sensitivity of BRCA1-associated tumours to this compound.

• 出版日期2010-12