A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation

Akira Miyauchi, Shin Ichi Egawa, Hitoyasu Futami, Kanji Kuma, Takao Obara, Ken Yamaguchi

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

In individuals who carry germline mutations in tumor suppressor genes predisposing them to inherited cancer syndromes, occurrence of somatic mutations in the same genes contributes to tumorigenesis. Germline mutations in the RET proto-oncogene predispose individuals to multiple endocrine neoplasia (MEN) type 2 syndromes. Since these mutations are oncogenic by themselves, somatic mutations in the same gene had been thought unnecessary. Recently, a somatic mutation at codon 918 of RET was reported in medullary thyroid carcinoma (MTC) and C-cell hyperplasia in patients with MEN 2A or familial MTC (FMTC), suggesting its possible contribution to tumorigenesis. We describe here a novel somatic mutation at codon 919 in a patient with FMTC carrying a germline mutation at codon 768 that may also be related to tumor progression.

Original languageEnglish
Pages (from-to)527-531
Number of pages5
JournalJapanese Journal of Cancer Research
Volume88
Issue number6
DOIs
Publication statusPublished - 1997 Jun

Keywords

  • Familial medullary carcinoma
  • Germline mutation
  • RET proto-oncogene
  • Somatic mutation

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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