Article
The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.
Carcinogenesis - 1 Mar 2005
Frank Bernd, Hemminki Kari, Wirtenberger Michael, Bermejo Justo Lorenzo, Bugert Peter, Klaes Rüdiger, Schmutzler Rita K, Wappenschmidt Barbara, Bartram Claus R, Burwinkel Barbara
Abstract excerpt
Overexpression of the proto-oncogene ERBB2 (HER2/NEU) has been observed in 20-30% of breast cancers involving poor prognosis. Genetic alterations within ERBB2 have been shown to induce carcinogenesis and metastasis. We investigated eight annotated single nucleotide polymorphisms for occurrence in familial breast cancer samples. The confirmed variants Ile654Val, Ile655Val and Ala1170Pro were analysed in subsequent...
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