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

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;

Glioma

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]