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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Bibliographic Details
Main Authors: Calò, Valentina, Bruno, Loredana, Paglia, Laura La, Perez, Marco, Margarese, Naomi, Gaudio, Francesca Di, Russo, Antonio
Format: Online
Language:English
Published: MDPI 2010
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837329/