Article
655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations.
Cellular oncology : the official journal of the International Society for Cellular Oncology - 1 Jan 2007
Tommasi Stefania, Fedele Vita, Lacalamita Rosanna, Bruno Michele, Schittulli Francesco, Ginzinger David, Scott Gery, Eppenberger-Castori Serenella, Calistri Daniele, Casadei Silvia, Seymour Ian, Longo Salvatore, Giannelli Gianluigi, Pilato Brunella, Simone Giovanni, Benz Christopher C, Paradiso Angelo
Abstract excerpt
Human ERBB2 presents several SNPs. One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk. Another SNP, Ala1170Pro, introduces a structural change in the carboxyl-terminal regulatory domain of the protein, but its clinical and biological importance remains undefined. The...
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