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

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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Autori principali: Lindor, Noralane M., Guidugli, Lucia, Wang, Xianshu, Vallée, Maxime P., Monteiro, Alvaro N.A., Tavtigian, Sean, Goldgar, David E., Couch, Fergus J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3242438/
https://ncbi.nlm.nih.gov/pubmed/21990134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21627
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