Article
Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
Cancer medicine - 1 Feb 2023
Sokolenko Anna P, Sultanova Luisa V, Stepanov Ilya A, Romanko Alexandr A, Venina Aigul R, Sokolova Tatiana N, Musayeva Hedi S, Tovgereeva Marina Ya, Magomedova Mareta Kh, Akhmatkhanov Khusein U, Vagapova Elisa I, Suleymanov Elkhan A, Vasilyeva Elena V, Bakaeva Elvina Kh, Bizin Ilya V, Aleksakhina Svetlana N, Imyanitov Evgeny N
Abstract excerpt
Coding sequences of BRCA1, BRCA2, ATM, TP53, and PALB2 genes were analyzed in 68 consecutive Chechen patients with high-grade serous ovarian cancer (HGSOC). Pathogenic BRCA1/2 variants were identified in 15 (22%) out of 68 HGSOC cases. Nine out of ten patients with BRCA1 pathogenic alleles carried the same deletion (c.3629_3630delAG), and three out of five BRCA2 heterozygotes had Q3299X allele. The analysis of 49...
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