ArticleJournal of medical genetics2002
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Quantitative assessment of the association between L769L and S836S polymorphisms at RET gene and medullary thyroid carcinoma risk.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population.Endocrine · 2005Pooled it
- Discrepancies of RET gene and risk of differentiated thyroid carcinoma.Cancer biomarkers : section A of Disease markers · 2022Article
- Investigating the mechanisms of papillary thyroid carcinoma using transcriptome analysis.Molecular medicine reports · 2017Article
- Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Pediatric research · 2017Review
- Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.Journal of endocrinological investigation · 2015Article
- RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.PloS one · 2014Article
- Article
- Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.Familial cancer · 2012Article
- Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.Radiation research · 2009Article
- Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.Journal of endocrinological investigation · 2008Article
- Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.World journal of gastroenterology · 2005Article
- Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer.Journal of medical genetics · 2004Article
- Mutation of RET gene in Chinese patients with Hirschsprung's disease.World journal of gastroenterology · 2002Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPapillary thyroid carcinoma (PTC), which may be sporadic (95%) or familial (5%), has a prevalence adjusted for age in the general population of 1:100 000. Somatic rearrangements of the RET proto-oncogene are present in up to 66% of sporadic tumours, while they are rarely found in familial cases. PURPOSE: In order to determine if some variants of this gene, or a combination of them, might predispose to PTC, we looked for an association of RET haplotype(s) in PTC cases and in controls from four countries matched for sex, age, and population.
methodsFour single nucleotide polymorphisms (SNPs) across the RET coding sequence were typed and haplotype frequencies were estimated. Genotype and haplotype distributions were compared among these cases and controls.
resultsTen haplotypes were observed, the seven most frequent of which have been previously described in sporadic Hirschsprung patients and controls. The single locus analyses suggested association of exon 2 and exon 13 SNPs with sporadic PTC. The haplotype analysis showed over-representation of one haplotype in French and Italian sporadic PTC, whereas a different haplotype was significantly under-represented in French familial PTC.
conclusionsOur data suggest that some variants of RET and some specific haplotypes may act as low penetrance alleles in the predisposition to PTC.
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