Open AccessA Novel Somatic Mutation in the RET Proto‐oncogene in Familial Medullary Thyroid Carcinoma with a Germline Codon 768 Mutation
Author(s) -
Miyauchi Akira,
Egawa Shinichi,
Futami Hitoyasu,
Kuma Kanji,
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.tb00414.x
Subject(s) - germline mutation , germline , somatic cell , carcinogenesis , mutation , multiple endocrine neoplasia type 2 , genetics , cancer research , biology , multiple endocrine neoplasia , proto oncogene proteins c ret , medullary carcinoma , thyroid carcinoma , cancer , gene , thyroid , receptor , neurotrophic factors , glial cell line derived neurotrophic factor
In individuals who carry gcrmline 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 gcrmline mutation at codon 768 that may also be related to tumor progression.