Germ‐line and somatic mutations of the APC gene in patients with turcot syndrome and analysis of APC mutations in brain tumors

Takahiro Mori, Hiroki Nagase, Akira Horii, Yasuo Miyoshi, Shuichi Nakatsuru, Takahisa Aoki, Hirofumi Arakawa, Yusuke Nakamura, Takashi Shimano, Akio Yanagisawa, Yukitaka Ushio, Sadamu Takano, Michio Ogawa, Masato Nakamura, Masabumi Shibuya, Ryo Nishikawa, Masao Matsutani, Yasuhide Hayashi, Hitoshi Takahashi, Fusahiro IkutaTetsuro Nishihira, Shozo Mori

Research output: Contribution to journalArticlepeer-review

97 Citations (Scopus)

Abstract

The Turcot syndrome (TS) is a rare, probably autosomal recessive, disorder characterized by development of primary neuroepithelial tumors of the central nervous system (CNS) and numerous adenomatous colorectal polyps. To examine the possible involvement of mutations of the APC gene, which is responsible for familial adenomatous polyposis (FAP), in Turcot syndrome, we examined DNAs from TS patients for alterations in this gene by means of ribonuclease protection analysis. Germ‐line APC mutations were detected in each of three unrelated cases of TS, and additional (somatic) mutations were observed in colonic adenomas that had developed in one of these patients. However, no somatic mutations in APC were found among 91 neuroepithelial tumors (medulloblastoma, glioblastoma, astrocytoma, and oligodendroglioma). whether sporadic or associated with TS. These results suggest that the APC gene is associated with pathogenesis of one feature of TS, but that at least one other gene is responsible for the genesis of neuroepithelial tumors in the CNS. Genes Chrom Cancer 9:168‐172 (1994). © 1994 Wiley‐Liss, Inc.

Original languageEnglish
Pages (from-to)168-172
Number of pages5
JournalGenes, Chromosomes and Cancer
Volume9
Issue number3
DOIs
Publication statusPublished - 1994 Mar
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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