BRCA1 4153delA mutation (”Baltic/Black Sea”) in breast cancer patients in Ukraine

Abstract

Purpose. To analyze the most common mutations in the genes BRCA1/2 among women from West Ukraine withbreast cancer (BC) who are burdened with a family history of this pathology.

Materials and methods. 335 patients with (BC) from West Ukraine studied pedigrees and 125 DNA samples. A molecular-genetic method determined the presence of seven mutations in the gene BRCA1 (185delAG, 4153delA, 5382InsC,188del11, 5396 +1 G> A, 185InsA, 5331 G> A) and 3 gene mutations in BRCA2 (6174delT, 6293S> G, 6024delTA).

Results. Only every 9th patient with BC had BC in his family history. It is this group we examined in detail for the BRCA1/2 gene mutations presence. BRCA1/2 gene mutations were found in 5 patients (4%) among 125 women with BC who are burdened with family history of this pathology. In 2 cases diagnosed mutation of the gene BRCA1 (5382 Ins C), and 2 — BRCA1 185 del AG,4153delA — 1. Аll mutations belonged to the group of founder mutations in the ethnic group of Ashkenazi Jews and the geographical group of Baltic-Black Sea region.