Open AccessGermline Mutations of the MEN1 Gene in Japanese Kindred with Multiple Endocrine Neoplasia Type 1
Author(s) -
Shimizu Satoko,
Tsukada Toshihiko,
Futami Hitoyasu,
Ui Kotaro,
Kameya Toru,
Kawanaka Masahiro,
Uchiyama Shozo,
Aoki Akira,
Yasuda Hiroko,
Kawano Shinichiro,
Ito Yukio,
Kanbe Masako,
Obara Takao,
Yamaguchi Ken
Publication year - 1997
Publication title -
japanese journal of cancer research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 0910-5050
DOI - 10.1111/j.1349-7006.1997.tb00325.x
Subject(s) - men1 , multiple endocrine neoplasia , germline mutation , germline , genetics , biology , mutation , gene , proband
Multiple endocrine neoplasia type 1 (MEN1) is an autosotnal dominant familial cancer syndrome. The responsible gene MEN1 has recently been isolated, and its germline mutations have been identified in affected individuals in the United States, Canada and Europe. We screened for MEN1 mutations by direct nucleotide sequencing of all protein‐coding regions, and identified five distinct germline mutations in five among six Japanese kindreds with familial MEN1 or familial hyperparathyroidism. The mutations were dispersed across the gene. These findings suggest that, because of the absence of an obvious founder effect, the entire MEN1 gene region should be examined for germline mutations in the probands of MEN1 and related syndromes in Japanese families.