Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

The assessment of the influence of many rare BRCA2 missense mutations on cancer risk has proved difficult. A multifactorial likelihood model that predicts the odds of cancer causality for missense variants is effective, but is limited by the availability of family data. As an alternative, we develop...

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Auteurs principaux: Farrugia, Daniel J., Agarwal, Mukesh K., Pankratz, Vernon S., Deffenbaugh, Amie M., Pruss, Dmitry, Frye, Cynthia, Wadum, Linda, Johnson, Kiley, Mentlick, Jennifer, Tavtigian, Sean V., Goldgar, David E., Couch, Fergus J.
Format: Artigo
Langue:Inglês
Publié: 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2936780/
https://ncbi.nlm.nih.gov/pubmed/18451181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-07-1587
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