Open AccessSomatic Mutation of the APC Gene in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis
Author(s) -
Iwama Takeo,
Konishi Motoko,
Iijima Takeru,
Yoshinaga Keigo,
Tominaga Takeshi,
Koike Morio,
Miyaki Michiko
Publication year - 1999
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.1349-7006.1999.tb00757.x
Subject(s) - familial adenomatous polyposis , germline mutation , somatic cell , germline , thyroid carcinoma , mutation , adenomatous polyposis coli , cancer research , gene , thyroid , biology , thyroid cancer , genetics , medicine , cancer , colorectal cancer
We report the existence of both germline and somatic mutations of the APC gene in thyroid carcinomas from familial adenomatous polyposis (FAP) patients. One papillary thyroid carcinoma from a 20‐year‐old woman, with germline mutation of the APC gene (TCA to TGA at codon 1110), showed a somatic mutation of AAAAC deletion between codons 1060 and 1063. Another somatic mutation of CAG to TAG at codon 886 was also found in one of multiple thyroid carcinomas from a 26‐year‐old woman with attenuated FAP and germline mutation at codon 175 (C deletion). This is the first evidence that total absence of the normal function of the APC gene is involved in development of thyroid carcinomas in FAP.