Unclassified Variants in the Breast Cancer Susceptibility Genes BRCA1 and BRCA2

  • Sean V. Tavtigian
Part of the Cancer Genetics book series (CANGENETICS)

Genetic testing for mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 was underway by the mid-1990 s and is now commonly performed. Important decisions regarding the clinical management of individuals from high-risk families are often made based on whether the proband carries a pathogenic variant or not. However, test results are often confounding. In addition to sequence variants that are highly likely to cause disease (for example, protein-truncating mutations that result from a number of different kinds of underlying sequence alterations), clinical mutation screening often reveals missense substitutions, potential splicing variants, and/or small in-frame insertion–deletion variants (indels) that are initially classified as variants of uncertain clinical significance (variously referred to as unclassified clinical variants, UCVs; variants of uncertain significance, VUSs; and unclassified variants


Splice Junction Pathogenic Variant BRCT Domain Missense Substitution BRCA2 Tumor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.International Agency for Research on Cancer (IARC)LyonFrance

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