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Table 2 SNP’s and mutations of IGF1R gene associated with cancers

From: Insulin-like growth factor-1 signaling in renal cell carcinoma

SNP/mutation Nucleotide change Type of cancer Fuctional feature Ref.
rs8038415 TT Breast cancer BRCA1 carriers with homozigosity TT at this SNP site experience a 40 % higher risk of breast cancer. [103]
rs2272037 T > C Colorectal cancer;
Significantly related with shorter OS in patients with metastatic colorectal cancer (mCRC). CT and TT associated with increased risk for glioma. [60] [104]
rs2016347 G > T Colorectal cancer, glioma Related to reduced responsiveness to cetuximab treatment. Shorter OS in patients with mCRC. G allele associated with increased risk for Glioma (3’UTR in 3129 site) [104, 105]
rs8038415 C/T Non–small cell lung cancer (NSCLC) Homozygous TT in this SNP had a significantly better OS compared with heterozygous individuals and a trend toward improved survival compared with patients that were homozygous for CC . [106]
CNV in IGF1R gene   Non–small-cell lung cancers (NSCLC) High IGF1R gene copy number harbors positive prognostic value in NSCLC [107]
Amplification in 15q26   High grade glioma Unkown [108]
Amplification in 15q25-26   Alveolar Rhabdomyosarcoma Related with the rearrangement of PAX7 gene [109]
A1374V   Lung squamous cell carcinoma Unknown; mutation occur in the C-terminal lobe of the kinase catalytic domain [110]
Deletion S1278   Renal clear cell carcinoma Unknown; deletion occur in the C-terminal tail region of the receptor [110]
M1255I   Lung adenocarcinoma Unknown; mutation occur in in the C-terminal lobe of the kinase catalytic domain [110]
G596V   Thymic carcinoma Exonic, Missense [111]
rs61740868 C/T Unknown Unfavorable substitution Arg1216Cys; showed an increase in energy (less favorable change) in comparison with the native structure. [112]
rs45437300 A/T Unknown Nonsense mutation [112]
rs2229765 A/G Unknown Affect splicing regulation; to be associated with higher plasma concentrations of circulating IGF1R [112]
rs55895813; rs36108138; rs45495500 A/G; A/C; C/T Unknown Splicing site [112]