Article
Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas.
Journal of the National Cancer Institute - 1 Jan 2014
Yamamoto Hiromasa, Higasa Koichiro, Sakaguchi Masakiyo, Shien Kazuhiko, Soh Junichi, Ichimura Koichi, Furukawa Masashi, Hashida Shinsuke, Tsukuda Kazunori, Takigawa Nagio, Matsuo Keitaro, Kiura Katsuyuki, Miyoshi Shinichiro, Matsuda Fumihiko, Toyooka Shinichi
Abstract excerpt
We encountered a family of Japanese descent in which multiple members developed lung cancer. Using whole-exome sequencing, we identified a novel germline mutation in the transmembrane domain of the human epidermal growth factor receptor 2 (HER2) gene (G660D). A novel somatic mutation (V659E) was...
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