GENOTYPE-PHENOTYPE CORRELATION IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 - REPORT OF THE INTERNATIONAL-RET-MUTATION-CONSORTIUM

被引：207

作者：

MULLIGAN, LM

MARSH, DJ

ROBINSON, BG

SCHUFFENECKER, L

ZEDENIUS, J

LIPS, CJM

GAGEL, RF

TAKAI, SL

NOLL, WW

FINK, M

RAUE, F

LACROIX, A

THIBODEAU, SN

FRILLING, A

PONDER, BAJ

ENG, C

机构：

[1] QUEENS UNIV,DEPT PATHOL,KINGSTON,ON K7L 3N6,CANADA

[2] ROYAL N SHORE HOSP,KOLLING INST MED RES,DEPT MOLEC GENET,ST LEONARDS,NSW 2065,AUSTRALIA

[3] HOP EDOUARD HERRIOT,GENET LAB,LYON,FRANCE

[4] KAROLINSKA HOSP,DEPT CLIN GENET & MOLEC MED,S-10401 STOCKHOLM,SWEDEN

[5] UNIV UTRECHT HOSP,DEPT INTERNAL MED,CLIN GENET CTR,UTRECHT,NETHERLANDS

[6] UNIV TEXAS,MD ANDERSON CANC CTR,HOUSTON,TX 77030

[7] OSAKA UNIV,SCH MED,DEPT MED GENET,SUITA,OSAKA 565,JAPAN

[8] DARTMOUTH COLL,HITCHCOCK MED CTR,DEPT PATHOL,LEBANON,NH 03756

[9] UNIV VIENNA,SCH MED,DEPT SURG,VIENNA,AUSTRIA

[10] UNIV HEIDELBERG,DEPT INTERNAL MED,W-6900 HEIDELBERG,GERMANY

[11] HOP HOTEL DIEU,CTR RECH,DEPT ENDOCRINOL & MED,MONTREAL,PQ,CANADA

[12] MAYO CLIN,DIV ENDOCRINOL,ROCHESTER,MN

[13] UNIV HAMBURG HOSP,CHIRURG KLIN,W-2000 HAMBURG,GERMANY

[14] ADDENBROOKES HOSP,CRC,HUMAN CANC GENET RES GRP,CAMBRIDGE,ENGLAND

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

来源：

JOURNAL OF INTERNAL MEDICINE | 1995年 / 238卷 / 04期

关键词：

INHERITED CANCER SYNDROME; MEN; 2; RET;

D O I：

10.1111/j.1365-2796.1995.tb01208.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified, RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG --> ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).

引用

页码：343 / 346

页数：4

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