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A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

✍ Scribed by Noralane M. Lindor; Lucia Guidugli; Xianshu Wang; Maxime P. Vallée; Alvaro N. A. Monteiro; Sean Tavtigian; David E. Goldgar; Fergus J. Couch

Book ID
112099727
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
107 KB
Volume
33
Category
Article
ISSN
1059-7794

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A review of a multifactorial probability
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Clinical mutation screening of the BRCA1 and BRCA2 genes for the presence of germline inactivating mutations is used to identify individuals at elevated risk of breast and ovarian cancer. Variants identified during screening are usually classified as pathogenic (increased risk of cancer) or not path

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Classification of rare missense variants in disease susceptibility genes as neutral or disease-causing is important for genetic counseling. Different criteria are used to help classify such variants in BRCA1 and BRCA2; however, the strongest evidence tends to come from segregation analysis and obser