Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but t...

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Publicado no:Sci Rep
Main Authors: Thompson, Ella R., Gorringe, Kylie L., Rowley, Simone M., Li, Na, McInerny, Simone, Wong-Brown, Michelle W., Devereux, Lisa, Li, Jason, Trainer, Alison H., Mitchell, Gillian, Scott, Rodney J., James, Paul A., Campbell, Ian G.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4601142/
https://ncbi.nlm.nih.gov/pubmed/26455428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14800
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