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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha: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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