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Article

Mutation of RET codon 768 is associated with the FMTC phenotype.

Clinical genetics - 1 Feb 1997

Boccia L M, Green J S, Joyce C, Eng C, Taylor S A, Mulligan L M

Abstract excerpt

Multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC) are inherited cancer syndromes resulting from mutations in the RET proto-oncogene. Missense mutations of five codons in exons 10 and 11 are found in both MEN 2A and FMTC families, while mutations at codon 768 in exon 13 have been identified in three FMTC families. We report here the results of mutation...

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Source

Identifiers

PMID: 9111992
DOI: 10.1111/j.1399-0004.1997.tb02424.x

Genes

RET

Provenance

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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Mutation of RET codon 768 is associated with the FMTC phenotype.PMID 9111992Read ↗

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 ↗

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.Semantic proximity Read ↗

The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.Semantic proximity Read ↗

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.Semantic proximity Read ↗

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Change in the spectrum of RET mutations diagnosed between 1994 and 2006.Semantic proximity Read ↗

Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.Semantic proximity Read ↗

RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A.Semantic proximity Read ↗

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