Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer

Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer

Abstract 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...

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Bibliographic Details
Main Authors: Anna P. Sokolenko, Luisa V. Sultanova, Ilya A. Stepanov, Alexandr A. Romanko, Aigul R. Venina, Tatiana N. Sokolova, Hedi S. Musayeva, Marina Ya. Tovgereeva, Mareta Kh. Magomedova, Khusein U. Akhmatkhanov, Elisa I. Vagapova, Elkhan A. Suleymanov, Elena V. Vasilyeva, Elvina Kh. Bakaeva, Ilya V. Bizin, Svetlana N. Aleksakhina, Evgeny N. Imyanitov
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Cancer Medicine
Subjects:
BRCA1 and BRCA2 testing
breast cancer
Chechens
founder mutation
next‐generation sequencing
ovarian cancer
Online Access:https://doi.org/10.1002/cam4.5159

Internet

https://doi.org/10.1002/cam4.5159

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