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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Main Authors: Christou, Charita M., Hadjisavvas, Andreas, Kyratzi, Maria, Flouri, Christina, Neophytou, Ioanna, Anastasiadou, Violetta, Loizidou, Maria A., Kyriacou, Kyriacos
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973689/
https://ncbi.nlm.nih.gov/pubmed/24695549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093400
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