Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma

Thyroid : Official Journal of the American Thyroid Association
R M FernandezS Borrego

Abstract

Little is known about the etiology of sporadic medullary thyroid carcinoma (sMTC). While germline gain-of-function mutations in the RET proto-oncogene cause hereditary MTC, the molecular mechanisms leading to the sporadic forms remain obscure. Our group had evidence about the existence of a low-penetrance susceptibility locus for sMTC in linkage disequilibrium with RET variants S836S/IVS1-126G>T, and probably in 5' with respect to both variants. In this study we sought to identify such locus. On the other hand, because an overrepresentation of G691S/S904S variants in patients with sMTC had been previously reported, we sought to determine if such association was present in our series. We performed a case-control study analysing a wide spectrum of RET variants in the 5' region of the gene, as well as the variants G691S/S904S. Haplotype distribution were also analyzed. A total of 58 patients with sMTC were included in the study. In addition, 100 unselected, unrelated race-, age-, and gender-matched normal controls were also evaluated. Although the overrepresentation of IVS1-126G>T remains present in our current sMTC series, thus supporting our previous hypothesis, no differences were obtained among cases and controls in the distri...Continue Reading

References

Dec 1, 1994·Human Molecular Genetics·M J BugalhoR F Gagel
Aug 24, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·C Eng
May 15, 2004·Thyroid : Official Journal of the American Thyroid Association·R M FernandezSalud Borrego
Jul 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Rossella EliseiAldo Pinchera

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Citations

Nov 4, 2008·Thyroid : Official Journal of the American Thyroid Association·Andreas WeinhaeuselBruno Niederle
Aug 15, 2009·Thyroid : Official Journal of the American Thyroid Association·Raquel M FernándezSalud Borrego
Feb 12, 2011·Thyroid : Official Journal of the American Thyroid Association·Ehsan AlvandiMehrdad Pedram
May 26, 2011·Journal of Molecular Endocrinology·Iñigo Landa, Mercedes Robledo
Mar 19, 2008·Current Problems in Surgery·Elizabeth G GrubbsDouglas B Evans
Feb 21, 2008·Clinical Endocrinology·Laura FugazzolaLuca Persani
Mar 29, 2013·International Journal of Cancer. Journal International Du Cancer·Francesca LantieriPaola Griseri
Nov 28, 2012·International Journal of Cancer. Journal International Du Cancer·Francesca LantieriPaola Griseri
Feb 2, 2018·Endocrine-related Cancer·Marta Kaczmarek-RyśRyszard Słomski
Nov 14, 2019·Genes·Berta Luzón-ToroSalud Borrego

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