Assessment of Rare BRCA1 and BRCA2 Variants of Unknown Significance Using Hierarchical Modeling

Current evidence suggests that the genetic risk of breast cancer may be caused primarily by rare variants. However, while classification of protein-truncating mutations as deleterious is relatively straightforward, distinguishing as deleterious or neutral the large number of rare missense variants i...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Capanu, Marinela, Concannon, Patrick, Haile, Robert W., Bernstein, Leslie, Malone, Kathleen E., Lynch, Charles F., Liang, Xiaolin, Teraoka, Sharon N., Diep, Anh T., Thomas, Duncan C., Bernstein, Jonine L., Begg, Colin B.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2011
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3111904/
https://ncbi.nlm.nih.gov/pubmed/21520273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gepi.20587
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