The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates genetic counselling and causes additional anxiety to carriers. In silico approaches currently used for VUS pathogenicity assessment are predictive and often produce conflicting data. Furthermore, func...

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Bibliographic Details
Main Authors: Charita M Christou, Andreas Hadjisavvas, Maria Kyratzi, Christina Flouri, Ioanna Neophytou, Violetta Anastasiadou, Maria A Loizidou, Kyriacos Kyriacou
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3973689?pdf=render

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http://europepmc.org/articles/PMC3973689?pdf=render

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