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Article

Characterization of novel germline c-kit gene mutation, KIT-Tyr553Cys, observed in a family with multiple gastrointestinal stromal tumors.

Laboratory investigation; a journal of technical methods and pathology - 1 Mar 2012

Nakai Mayumi, Hashikura Yuka, Ohkouchi Mizuka, Yamamura Masahiro, Akiyama Takashi, Shiba Kazuhiro, Kajimoto Noriko, Tsukamoto Yoshitane, Hao Hiroyuki, Isozaki Koji, Hirai Toshihiro, Hirota Seiichi

Abstract excerpt

We found a novel type germline mutation at exon 11 of the c-kit gene, which results in a substitution of Tyr to Cys at codon 553 of the c-kit gene product (KIT-Tyr553Cys), in a 68-year-old female patient with multiple gastrointestinal stromal tumors (GISTs). In the present study, we carried out mutational analysis in her family members to determine the carriers and characterized the mutation by introducing the...

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Identifiers

PMID: 22083669
DOI: 10.1038/labinvest.2011.165

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KIT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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