Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients.

doi:10.1007/s10549-020-05827-8

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Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients.

Breast cancer research and treatment - 1 Nov 2020

Sokolenko Anna P, Sokolova Tatiana N, Ni Valeria I, Preobrazhenskaya Elena V, Iyevleva Aglaya G, Aleksakhina Svetlana N, Romanko Alexandr A, Bessonov Alexandr A, Gorodnova Tatiana V, Anisimova Elena I, Savonevich Elena L, Bizin Ilya V, Stepanov Ilya A, Krivorotko Petr V, Berlev Igor V, Belyaev Alexey M, Togo Alexandr V, Imyanitov Evgeny N

Abstract excerpt

BACKGROUND: The spectrum of BRCA1 and BRCA2 mutations in Slavic countries is characterized by a high prevalence of founder alleles. METHODS: We analyzed a large data set of Russian breast cancer (BC) and ovarian cancer (OC) patients, who were subjected to founder mutation tests or full-length BRCA1 and BRCA2 analysis. RESULTS: The most commonly applied test, which included four founder mutations (BRCA1: 5382insC,...

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PMID: 32776218
DOI: 10.1007/s10549-020-05827-8

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