Table 1 Selected SNPs in IGF-1 pathway
RS number | Gene | Alleles (major > minor) | Position in gene and functionality | Clinical influence of polymorphism |
|---|---|---|---|---|
rs10735380 | IGF1 | A > G | Transcription factor binding site, intronic | Variant G allele associated with increased serum IGF-1 level [20, 35, 41] |
rs1520220 | IGF1 | C > G | Intronic | Variant G allele associated with increased serum IGF-1 level [35, 42] and BC risk [42]. |
rs6220 | IGF1 | A > G | 3′-untranslated region, microRNA binding site | Variant G allele associated with increased serum IGF-1 level and increased BC risk [42] |
rs2946834 | IGF1 | G > A | 3′-untranslated region | Variant A allele associated with increased serum IGF-1 level [35, 42] and with worse outcome in BC [21] |
rs2270628 | IGFBP3 | C > T | Downstream | Variant T allele associated with decreased serum IGF-BP3 level [20, 35, 36] |
rs2854746 | IGFBP3 | G > C | Nonsynonymous in exon 1 | Variant C allele associated with increased serum IGF-BP3 level [20, 35, 36, 43] and with better outcome in advanced gastric cancer treated with CT [44] |
(Ala32Gly) | ||||
rs4320932 | IGF2 | T > C | Transcription factor binding site, intronic | Variant C allele associated with worse outcome in ovarian cancer and worse response to CT [45] |
rs2016347 | IGF1R | G > T | 3′-untranslated region, microRNA binding site | Variant T allele associated with better outcome in ER+ BC [22] |