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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Detalles Bibliográficos
Autores principales: Christou, Charita M., Hadjisavvas, Andreas, Kyratzi, Maria, Flouri, Christina, Neophytou, Ioanna, Anastasiadou, Violetta, Loizidou, Maria A., Kyriacou, Kyriacos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973689/
https://www.ncbi.nlm.nih.gov/pubmed/24695549
http://dx.doi.org/10.1371/journal.pone.0093400