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Article

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

1 Jan 1994

Abstract excerpt

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 2B (MEN 2B) 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...

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Identifiers

PMID: 7881414
DOI: 10.1093/hmg/3.12.2163

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Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogenePMID 7881414Read ↗

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The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.Semantic proximity Read ↗

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.Semantic proximity Read ↗

Mutations of the RET proto-oncogene in Hirschsprung's disease.Semantic proximity Read ↗

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.Semantic proximity Read ↗

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.Semantic proximity Read ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

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