POINT MUTATION WITHIN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B AND RELATED SPORADIC TUMORS

被引：452

作者：

ENG, C

SMITH, DP

MULLIGAN, LM

NAGAI, MA

HEALEY, CS

PONDER, MA

GARDNER, E

SCHEUMANN, GFW

JACKSON, CE

TUNNACLIFFE, A

PONDER, BAJ

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP,CAMBRIDGE CB2 1QP,ENGLAND

[2] HARVARD UNIV,SCH MED,DEPT MED,DANA FARBER CANC INST,DIV MED ONCOL,BOSTON,MA 02115

[3] HARVARD UNIV,SCH MED,DEPT MED,DANA FARBER CANC INST,DIV CANC EPIDEMIOL & CONTRO,BOSTON,MA 02115

[4] UNIV SAO PAULO,FAC MED,DEPT RADIOTERAPIA,DISCIPLINA ONCOL,SAO PAULO,BRAZIL

[5] HANNOVER MED SCH,ABDOMINAL & TRANSPLANTAT CHIRURG KLIN,W-3000 HANNOVER,GERMANY

[6] HENRY FORD HOSP,GENET RES LAB,DETROIT,MI 48202

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1093/hmg/3.2.237

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The susceptibility loci for the three multiple endocrine neoplasia (MEN) type 2 syndromes have been mapped to the region of chromosome 10q11.2 containing the RET proto-oncogene, which codes for a receptor tyrosine kinase. The majority of MEN 2A and familial medullary thyroid carcinoma results from missense mutations within one of five cysteine codons in the extracellular domain of the RET proto-oncogene. We now report a missense mutation, resulting in the substitution of a threonine for a methionine at codon 918 in the tyrosine kinase catalytic domain, in the germline of 26 of 28 apparently distinct families with MEN 2B. DNA from five of 13 apparently sporadic MTC and one of 12 apparently sporadic phaeochromocytomas harboured a similar mutation, but the correspending germline DNA was wildtype in each case.

引用

页码：237 / 241

页数：5

共 31 条

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