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Article

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

The Journal of clinical endocrinology and metabolism - 1 Jul 1996

Caron P, Attié T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S

Abstract excerpt

The cosegregation of multiple endocrine neoplasia (MEN) type 2A with Hirschsprung's disease (HSCR), two diseases associated with mutation of the RET proto-oncogene, is infrequent. A 30-yr-old man was referred for screening of MEN 2A. Surgery for HSCR was performed at 4 yr of age. Basal and pentagastrin-stimulated calcitonin levels were abnormal. Histological examination of the thyroid confirmed bilateral...

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Identifiers

PMID: 8675603
DOI: 10.1210/jcem.81.7.8675603

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.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.PMID 8675603Read ↗

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and 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 ↗

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

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

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

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

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Semantic proximity Read ↗

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneSemantic proximity Read ↗

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

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma 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 ↗

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