Article
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
Familial cancer - 1 Mar 2012
Qi X-P, Ying R-B, Ma J-M, Liu W-T, Du Z-F, Fei J, Yang C-P, Song Q-Z, Jin H-Y, Chen Z-G, Han J-S, Wang J-Q, Chen X-L, Zhao Y, Lu J-J, Zhang X-N
Abstract excerpt
We report a Chinese pedigree with familial medullary thyroid carcinoma. Direct sequencing of the entire coding sequences of Rearranged during Transfection (RET) identified a recurrent c.T1852A (p.C618S) mutation in 13 of 23 members. The polymorphisms c.A135G (p.A45A), c.A1296G (p.A432A), c.T2307G (p.L769L) and IVS19 + 15T > C were also found in 13 carriers, and c.G2073A (p.G691S) was found in 1 carrier. Of the 13...
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