ArticleAnnals of surgery2002
Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations.
Article in Annals of surgery, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 56 citations in OpenAlex.
- GermlineFrontiers in endocrinology · 2021Article
- Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives.Familial cancer · 2016Article
- Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica.Journal of cancer epidemiology · 2016Article
- Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.Endocrine-related cancer · 2015Article
- Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.Thyroid : official journal of the American Thyroid Association · 2014Article
- Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.Journal of endocrinological investigation · 2013Article
- RET-protooncogene variants in patients with sporadic neoplasms of the digestive tract and the central nervous system.International journal of colorectal disease · 2011Article
- Medullary thyroid cancer: RET testing of an archival material.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2010Article
- RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.Endocrine · 2009Article
- Codon Y791F mutations in a large kindred: is prophylactic thyroidectomy always indicated?World journal of surgery · 2007Article
- The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease.Pediatric surgery international · 2006Article
- A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma.Endocrine · 2005Article
- Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg.Journal of endocrinological investigation · 2005Article
- Molecular pathogenesis of MEN2-associated tumors.Familial cancer · 2005Review
- Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634.World journal of surgery · 2004Article
- Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene.Langenbeck's archives of surgery · 2003Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe a genotype-phenotype correlation in MEN2 families with germline mutations of codons 790/791 and discuss options for the therapeutic management of gene carriers. SUMMARY BACKGROUND DATA: Heredity of MEN2 syndromes is caused by a heterozygous germline mutation in the protooncogene. Rare mutations of codons 790/791 associated with incomplete penetrant MEN2A/FMTC phenotype were reported in five families, contraindicating the prophylactic thyroidectomy for the genetically affected children.
methodsForty-five patients with a putative sporadic MTC were screened for germline mutations by direct DNA sequencing. Family members of identified index cases underwent genetic analysis. Gene carriers were examined clinically and biochemically, and all gene carriers underwent prophylactic thyroidectomy.
resultsFive index patients were identified, four of whom harbored mutations in codons 790/791 and one in codon 634. In the kindreds, four L790F carriers and one Y791F carrier were detected. The thyroid gland histology of L790F carriers revealed medullary thyroid carcinoma in two patients (aged 29 and 50 years) and C-cell hyperplasia in two additional patients (aged 9 and 16 years). The Y791F carrier had a normal histology.
conclusionsCodon 790/791 mutations had diverse penetrance. Whereas prophylactic thyroidectomy in children is a justifiable approach for codon 790 mutation carriers, the indication for thyroidectomy should depend on the clinical course of codon 791 carriers.
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