Unclassified variants in BRCA genes: guidelines for interpretation
نویسندگان
چکیده
منابع مشابه
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 contain missense mutations, which result in amino acid substitution and intronic variants with spli...
متن کاملAdding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2 generates many unclassified variants (UVs). Most of these UVs are either rare missense substitutions or nucleotide substitutions near the splice junctions of the protein coding exons. Previously, we developed a quantitative method for evaluation of BRCA gene UVs-the "integrated evaluation"-that combines a sequence an...
متن کاملIn silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes
Recent advances in DNA sequencing techniques have led to an increase in the identification of single nucleotide polymorphisms (SNPs) in BRCA1 and BRCA2 genes, but no further information regarding the deleterious probability of many of them is available (Variants of Unknown Significance/VUS). As a result, in the current study, different sequence- and structure-based computation...
متن کاملBRCA Share: A Collection of Clinical BRCA Gene Variants.
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical ...
متن کاملClinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients
PURPOSE Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to identify potentially pathogenic UVs by comparing their prevalence between breast cancer patients and controls. MATERIALS AND METHODS A total of 328 breast cancer patients underwent BRCA...
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ژورنال
عنوان ژورنال: Annals of Oncology
سال: 2011
ISSN: 0923-7534
DOI: 10.1093/annonc/mdq661