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Article

Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.

Journal of pediatric surgery - 1 Feb 1998

Decker R A, Peacock M L

Abstract excerpt

PURPOSE: The association of the rare hereditary cancer syndrome, multiple endocrine neoplasia type 2a (MEN 2a) with Hirschsprung's disease, both linked to germline mutations in the RET proto-oncogene, has been reported recently. With the widespread availability of genetic screening for MEN 2a, it is necessary to define the indications for genetic testing of MEN 2a and population subgroups at high risk for...

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Identifiers

PMID: 9498388
DOI: 10.1016/s0022-3468(98)90433-x

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.PMID 9498388Read ↗

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.Semantic proximity Read ↗

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.Semantic proximity Read ↗

Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.Semantic proximity Read ↗

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.Semantic proximity Read ↗

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.Semantic proximity Read ↗

Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.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 ↗

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.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 ↗

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 ↗

Multiple endocrine neoplasia type 2B and Hirschsprung's disease.Semantic proximity Read ↗

RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.Semantic proximity Read ↗

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