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Article

A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.

The Journal of clinical endocrinology and metabolism - 1 May 1999

Pigny P, Bauters C, Wemeau J L, Houcke M L, Crepin M, Caron P, Giraud S, Calender A, Buisine M P, Kerckaert J P, Porchet N

Abstract excerpt

Familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia type 2A syndromes are dominantly inherited diseases caused by activating germline mutations of the RET protooncogene. The majority of these patients carry a germline point mutation affecting one of five cysteine residues encoded by exon 10 (codon 609, 611, 618, or 620) or 11 (codon 634). In a few FMTC families, point mutations involving...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10323403
DOI: 10.1210/jcem.84.5.5665

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.PMID 10323403Read ↗

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A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.Semantic proximity Read ↗

A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid CarcinomaSemantic proximity Read ↗

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.Semantic proximity Read ↗

A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.Semantic proximity Read ↗

A rare <i>RET</i> gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screeningSemantic proximity Read ↗

A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.Semantic proximity Read ↗

Mutation of RET codon 768 is associated with the FMTC phenotype.Semantic proximity Read ↗

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