| [1] PubMed ID: | 36338681 |
| Disease Name: | Sarcoma, Ewing |
| Sample: | populations |
| Dysfunction Pattern: | Mutation(rs112316332, rs13242065, rs12700421) |
| Validated Method: | Genotyping |
| Description: | An association between polymorphisms and EWS susceptibility was observed for three IGF2BP3 SNPs - rs112316332, rs13242065, rs12700421 - and for four SENCR SNPs - rs10893909, rs11221437, rs12420823, rs4526784 -. In addition, IGF2BP3 rs34033684 and SENCR rs10893909 variants increased the risk for female respect to male subgroup when carried together, while IGF2BP3 rs13242065 or rs76983703 variants reduced the probability of a disease later onset (> 14 years). Moreover, the absence of IGF2BP3 rs10488282 variant and the presence of rs199653 or rs35875486 variant were significantly associated with a worse survival in EWS patients with localized disease at diagnosis. |
| Causality: | No |
| Causal Description: | |
| Clinical-realted Application: | |
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