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

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 t...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939208/
https://www.ncbi.nlm.nih.gov/pubmed/36000185
http://dx.doi.org/10.1002/cam4.5159