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| DIVERSE PHENOTYPES ASSOCIATED WITH EXON-10 MUTATIONS OF THE RET PROTOONCOGENE |
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| Author(s): MULLIGAN LM, ENG C, ATTIE T, LYONNET S, MARSH DJ, HYLAND VJ, ROBINSON BG, FRILLING A, VERELLENDUMOULIN C, SAFAR A, VENTER DJ, MUNNICH A, PONDER BAJ |
| Source: HUMAN MOLECULAR GENETICS Volume: 3 Issue: 12 Pages: 2163-2167 Published: DEC 1994 |
| Times Cited: 161 References: 27 |
| Abstract: Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 28 (MEN 28) and familial medullary thyroid carcinoma (FMTC). In HSCR these mutations are dispersed throughout the gene, while in MEN 2A and FMTC, they are tightly clustered in five cysteine codons of the RET extracellular domain. HSCR and MEN 2 are usually distinct but occasional families have been reported with both diseases. In each of five families with HSCR with or without MEN 2A or FMTC, we have identified a nucleotide substitution in one of the five cysteine codons previously associated with MEN 2A or FMTC, In one family, which had HSCR as its only phenotype, we detected a Cys --> Trp mutation at codon 609 which had not been previously observed, In three families, both HSCR and MEN 2A were associated with a single Cys --> Arg mutation at either codon 618 or 620 of RET. In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus, We suggest that specific mutations in cysteine codons 618 and 620 result in MEN 2A or FMTC, but can also |
| Document Type: Article |
| Language: English |
| Reprint Address: MULLIGAN, LM (reprint author), QUEENS UNIV, DEPT PEDIAT, 20 BARRIE ST, KINGSTON, ON K7L 3N6 CANADA |
Addresses:
1. UNIV CAMBRIDGE, DEPT PATHOL, CANC RES CAMPAIGN, HUMAN CANC GENET RES GRP, CAMBRIDGE CB2 1QP, ENGLAND
2. QUEENS UNIV, DEPT PATHOL, KINGSTON, ON K7L 3N6 CANADA
3. HARVARD UNIV, SCH MED, DIV MED ONCOL, BOSTON, MA 02115 USA
4. HARVARD UNIV, SCH MED, DIV CANC EPIDEMIOL & CONTROL, BOSTON, MA 02115 USA
5. HARVARD UNIV, SCH MED, DANA FARBER CANC INST, DEPT MED, BOSTON, MA 02115 USA
6. HOP NECKER ENFANTS MALAD, INSERM, U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE
7. HOP NECKER ENFANTS MALAD, CHIRURG INFANTILE CLIN, SERV GENET MED, F-75743 PARIS, FRANCE
8. ROYAL N SHORE HOSP, KOLLING INST MED RES, DEPT MOLEC GENET, ST LEONARDS, NSW 2065 AUSTRALIA
9. UNIV HAMBURG, KRANKENHAUS EPPENDORF, CHIRURG KLIN, W-2000 HAMBURG 20, GERMANY
10. UNIV CATHOLIQUE LOUVAIN, CTR MED GENET, B-1200 BRUSSELS, BELGIUM
11. HOP ST VINCENT DE PAUL, SERV CHIRURG PEDIAT, PARIS, FRANCE
12. ROYAL CHILDRENS HOSP, PARKVILLE, VIC 3052 AUSTRALIA |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: PY481 |
| ISSN: 0964-6906 |
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