©The Author(s) 2016.
World J Gastroenterol. Dec 28, 2016; 22(48): 10680-10686
Published online Dec 28, 2016. doi: 10.3748/wjg.v22.i48.10680
Published online Dec 28, 2016. doi: 10.3748/wjg.v22.i48.10680
Table 1 Alterations observed for Case 1 in the short list of clinically relevant genes
| Gene | Nucleotide variation | Protein variation | Origin | Impact |
| AKT1 | c.235C>A | Gln79Lys | Somatic | Activating |
| CCNE1 | c.1022C>T | Thr341Met | Somatic | Unknown |
| CHEK2 | c.478A>G | Arg117Gly | Constitutive | Likely pathogenic |
| CUL2 | c.70C>T | Pro24Ser | Somatic | Unknown |
| ERCC6 | c.4179G>A | Met1393Ile | Somatic | Unknown |
| PMS2 | c.1531A>G | Thr511Ala | Constitutive | Benign |
| SMAD4 | c.1091T>A | Leu364X | Somatic | Loss of function |
| SUFU | c.1211T>C | Met404Thr | Constitutive | Unknown |
- Citation: Ghiringhelli F, Richard C, Chevrier S, Végran F, Boidot R. Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein. World J Gastroenterol 2016; 22(48): 10680-10686
- URL: https://www.wjgnet.com/1007-9327/full/v22/i48/10680.htm
- DOI: https://dx.doi.org/10.3748/wjg.v22.i48.10680