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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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Autors principals: 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
Idioma:Inglês
Publicat: 2008
Matèries:
Accés en línia: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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