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

Laboratory Investigation

Volumn 92, Issue 3, 2012, Pages 451-457

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

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b KAWASAKI MEDICAL SCHOOL   (Japan)

Author keywords

exon 11; gastrointestinal stromal tumor; germline mutation; imatinib; juxtamembrane domain; nilotinib; tyrosine kinase inhibitor

Indexed keywords

COMPLEMENTARY DNA; IMATINIB; NILOTINIB;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANTINEOPLASTIC ACTIVITY; ARTICLE; AUTOPHOSPHORYLATION; CANCER INHIBITION; CASE REPORT; CELL PROLIFERATION; CODON; CONTROLLED STUDY; DRUG EFFICACY; EXON; EXPRESSION VECTOR; FAMILIAL CANCER; FEMALE; GAIN OF FUNCTION MUTATION; GASTROINTESTINAL STROMAL TUMOR; GENETIC TRANSFECTION; GERM LINE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; LEUKOCYTE; LYMPHOID CELL; MALE; MITOSIS INHIBITION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; ONCOGENE C KIT; PRIORITY JOURNAL;

EID: 84857721293     PISSN: 00236837     EISSN: 15300307     Source Type: Journal    
DOI: 10.1038/labinvest.2011.165     Document Type: Article

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