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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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Detalhes bibliográficos
Main Authors: Calò, Valentina, Bruno, Loredana, Paglia, Laura La, Perez, Marco, Margarese, Naomi, Gaudio, Francesca Di, Russo, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3837329/
https://ncbi.nlm.nih.gov/pubmed/24281179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers2031644
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