The Clinical Significance of Unknown Sequence Variants in BRCA Genes

Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles co...

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Detalles Bibliográficos
Autores principales: Calò, Valentina, Bruno, Loredana, Paglia, Laura La, Perez, Marco, Margarese, Naomi, Gaudio, Francesca Di, Russo, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2010
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837329/
https://www.ncbi.nlm.nih.gov/pubmed/24281179
http://dx.doi.org/10.3390/cancers2031644

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837329/
https://www.ncbi.nlm.nih.gov/pubmed/24281179
http://dx.doi.org/10.3390/cancers2031644

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