Article
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Human mutation - 1 Jun 2010
Walker Logan C, Whiley Phillip J, Couch Fergus J, Farrugia Daniel J, Healey Sue, Eccles Diana M, Lin Feng, Butler Samantha A, Goff Sheila A, Thompson Bryony A, Lakhani Sunil R, Da Silva Leonard M, Tavtigian Sean V, Goldgar David E, Brown Melissa A, Spurdle Amanda B
Abstract excerpt
Missense substitutions in high-risk cancer susceptibility genes create clinical uncertainty in the genetic counseling process. Multifactorial likelihood classification approaches and in vitro assays are useful for the classification of exonic sequence variants in BRCA1 and BRCA2, but these currently rely on the assumption that changes in protein function are the major biological mechanism of pathogenicity. This...
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