. 2015 Jan 5;22(2):121–130. doi: 10.1530/ERC-14-0537
This work is licensed under a Table 1.
Germline SDHx variants in 3 independent series of sporadic differentiated thyroid cancer samples and pooled summary
| Variation | n | |
|---|---|---|
| (A) Germline SDHx variants in PTEN mutation-negative DTC individuals (15/241, 6.2%) | ||
| SDHB (n=6) | c.8C>G, p.Arg3Gly | 1 |
| c.487T>C, p.Ser163Pro | 5 | |
| SDHD (n=9) | c.34G>A, p.Gly12Ser | 6 |
| c.149A>G, p.His50Arg | 3 | |
| (B) Germline SDHx variants in TCGA THCA individuals (28/476, 5.9%) | ||
| SDHB (n=13) | c.8C>G, p.Arg3Gly | 1 |
| c.158G>A, p.Gly53Glu | 1 | |
| c.178A>G, p.Thr60Ala | 1 | |
| c.425A>T, p.Asp142Val | 1 | |
| c.487T>C, p.Ser163Pro | 9 | |
| SDHD (n=15) | c.34G>A, p.Gly12Ser | 10 |
| c.149A>G, p.His50Arg | 5 | |
| (C) Germline SDHx variants in CHTN-paired thyroid tumor samples (5/37, 13.5%) | ||
| SDHB (n=3) | c.8C>G, p.Arg3Gly | 2 |
| c.487T>C, p.Ser163Pro | 1 | |
| SDHD (n=2) | c.149A>G, p.His50Arg | 2 |
| (D) Germline SDHx variants in pooled 754 individuals (48/754, 6.3%) | ||
| SDHB (n=22) | c.8C>G, p.Arg3Gly | 4 |
| c.158G>A, p.Gly53Glu | 1 | |
| c.178A>G, p.Thr60Ala | 1 | |
| c.425A>T, p.Asp142Val | 1 | |
| c.487T>C, p.Ser163Pro | 15 | |
| SDHD (n=26) | c.34G>A, p.Gly12Ser | 16 |
| c.149A>G, p.His50Arg | 10 |
(A) Consecutive series of apparently sporadic PTEN mutation-negative differentiated thyroid cancer (DTC) samples from OSU thyroid center; (B) TCGA thyroid cancer (THCA) samples; (C) CHTN paired thyroid tumor-normal tissue samples; (D) pooled 754 subjects from above three sources.