Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.

doi:10.1007/s10549-019-05492-6

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Article

Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.

Breast cancer research and treatment - 1 Feb 2020

Kuligina Ekaterina S, Sokolenko Anna P, Bizin Ilya V, Romanko Alexandr A, Zagorodnev Kirill A, Anisimova Maria O, Krylova Daria D, Anisimova Elena I, Mantseva Maria A, Varma Ashok K, Hasan Syed K, Ni Valeria I, Koloskov Andrey V, Suspitsin Evgeny N, Venina Aigul R, Aleksakhina Svetlana N, Sokolova Tatiana N, Milanović Ana Marija, Schürmann Peter, Prokofyeva Darya S, Bermisheva Marina A, Khusnutdinova Elza K, Bogdanova Natalia, Dörk Thilo, Imyanitov Evgeny N

Abstract excerpt

PURPOSE: Germline variants in known breast cancer (BC) predisposing genes explain less than half of hereditary BC cases. This study aimed to identify missing genetic determinants of BC. METHODS: Whole exome sequencing (WES) of lymphocyte DNA was performed for 49 Russian patients with clinical signs of genetic BC predisposition, who lacked Slavic founder mutations in BRCA1, BRCA2, CHEK2, and NBS1 genes. RESULTS:...

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PMID: 31754952
DOI: 10.1007/s10549-019-05492-6

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