Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.

@article{Gimm2001OverrepresentationOA,
  title={Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.},
  author={O Gimm and Heather L. Dziema and Jessica Brown and Cuong Hoang-Vu and R. Hinze and Henning 5 Dralle and Lois M Mulligan and Charis Eng},
  journal={Oncogene},
  year={2001},
  volume={20 17},
  pages={2161-70}
}
In contrast to the hereditary form of medullary thyroid carcinoma (MTC), little is known about the etiology of sporadic MTC. Somatic gain-of-function mutations in the RET proto-oncogene, encoding a receptor tyrosine kinase, are found in an average of 40% of sporadic MTC. We analysed 31 sporadic MTC for somatic and germline variants in GFRA1, GFRA2 and GFRA3 which encode the co-receptors of RET. Although there were no somatic mutations in any of the three genes, a sequence variant (-193C>G) in… CONTINUE READING

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