Table 1.
Role of the RET variants in hereditary medullary thyroid cancer.
| RET variant | Author | Cases | Controls | P | Frequency (cases vs. controls) | Genotyping platform | Conclusion | Population |
|---|---|---|---|---|---|---|---|---|
| G691S (rs1799939) | Robledo (2003) | 198 | 653 | 0.037 | – | sequencing | Associated with the presence of MTC in younger individuals. | Spanish |
| Lesueur (2006) | 384 | – | – | – | Taqman | N/A | European | |
| Tamanah a (2009) | 77 a | 100 | 0.048 | 0; 4 | RFLP | Underrepresented in G533C-arriers. | Brazilian | |
| Sharma b (2011) | 51 | 50 | NS | 49; 48 | sequencing | N/A | Indian | |
| L769L (rs1800861) | Sharma b (2011) | 51 | 50 | NS | 45; 58 | sequencing | N/A | Indian |
| S836S (rs1800862) | Tamanah a (2009) | 77 a | 100 | 0.008 | 16.9; 4 | RFLP | Over-represented in G533C-carriers. | Brazilian |
| Siqueira (2010) | 88 | – | – | 7.95; – | RFLP | Associated with early onset and increased risk for metastatic disease. | Brazilian | |
| Sharma b (2011) | 51 | 50 | NS | 25; 22 | sequencing | N/A | Indian | |
| S904S (rs1800863) | Lesueur (2006) | 384 | – | – | – | Taqman | N/A | European |
| Sharma b (2011) | 51 | 50 | NS | 25; 22 | sequencing | N/A | Indian | |
| Tamanah a (2009) | 77 a | 100 | 0.048 | 0; 4 | RFLP | Underrepresented in G533C-carriers. | Brazilian | |
| IVS1–126 G>T (rs2565206) | Tamanah a (2009) | 77 a | 100 | 0.002 | 1.3; 0 | RFLP | Associated with younger age at diagnosis. | Brazilian |
| IVS8+82 A>G; 85–86 insC (rs3026750) | Tamanah a (2009) | 77 a | – | 0·019 | – | RFLP | Associated with lymph node metastases. Could induce abnormal splicing. | Brazilian |
a
Study performed in patients with RET G533C mutation;
b
The study included hereditary and sporadic MTC patients; N/A: no association was found.