Article
Evidence for a pathogenic role of BRCA1 L1705P and W1837X germ-line mutations.
Molecular biology reports - 1 May 2016
Sokolenko Anna P, Volkov Nikita M, Preobrazhenskaya Elena V, Suspitsin Evgeny N, Garifullina Aigul R, Ivantsov Alexandr V, Togo Alexandr V, Imyanitov Evgeny N
Abstract excerpt
BRCA1 L1705P (c.5114T>C) has been classified in the NCBI SNP database as the variant with uncertain significance and is absent in major BRCA1 databases. BRCA1 W1837X (c.5511G>A) results in a loss of only last 27 residues of BRCA1 protein, thus its pathogenic role still requires a confirmation. This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively....
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