Article
The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
PloS one - 1 Jan 2014
Christou Charita M, Hadjisavvas Andreas, Kyratzi Maria, Flouri Christina, Neophytou Ioanna, Anastasiadou Violetta, Loizidou Maria A, Kyriacou Kyriacos
Abstract excerpt
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, functional assays are either domain or function specific, thus they do not examine the entire spectrum of BRCA1...
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