1. Somatic Mutation of the APC Gene in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis
- Author
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Motoko Konishi, Takeo Iwama, Takeru Iijima, Keigo Yoshinaga, Morio Koike, Michiko Miyaki, and Takeshi Tominaga
- Subjects
Adult ,Cancer Research ,congenital, hereditary, and neonatal diseases and abnormalities ,Genes, APC ,Somatic cell ,Biology ,medicine.disease_cause ,Germline ,Familial adenomatous polyposis ,Thyroid carcinoma ,Germline mutation ,medicine ,Humans ,Thyroid Neoplasms ,Gene ,Histology of thyroid carcinoma ,Germ-Line Mutation ,Genetics ,Thyroid ,Somatic mutation of APC gene ,medicine.disease ,medicine.anatomical_structure ,Oncology ,Adenomatous Polyposis Coli ,Mutation ,Cancer research ,Female ,Carcinogenesis ,Rapid Communication - Abstract
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 210-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.
- Published
- 1999