Table VI.
Novel IRS-2 variants in colorectal cancer.
| Nucleotide variant | Amino acid change | Allele frequency in CRC patients | Allele frequency in controls | P-value | PoliPhen/SIFT/phylogenetic conservation of IRS-2 wild-type residue | CRC patient code |
|---|---|---|---|---|---|---|
| c.30C>G | p.(=) | 1/90 | 0/50 | NS | NA | 1607K, germline |
| c.84_85insAAC | p.Asn28_His29 insAsn | 1/90 | 0/396a | 0.036 | NA | 1708K, somatic |
| c.2103_2104 insGCC | p.Ala701_Val702 insAla | 1/90 | 0/396a | 0.036 | NA | 1738K, germline |
| c.2128C>T | p.Pro710Ser | 1/90 | 0/396a | 0.036 | Benign/tolerant/complete | MIP101 |
| c.2344G>A | p.Asp782Asn | 1/90 | 0/396a | 0.036 | Possiblydamaging/tolerant/complete | MIP101 |
| c.2392G>A | p.Val798Ile | 2/90 | 0/396a | 0.003 | Benign/tolerant/non conserved | DLD1, HCT-15 |
| c.3688G>A | p.Gly1230Ser | 3/90 | 0/396a | 0.0003 | Possibly damaging/intolerant/complete | DLD1, HCT-15, MIP101 |
a
Controls including samples analyzed in our laboratory plus 173 controls from Bottomley et al(17).
IRS, insulin receptor substrate; CRC, colorectal cancer; NS, not significant; NA, not applicable.