Table 1. Summary of somatic mutation of the genes of the 7q MDR in human cancer.* .
Gene | Full name | Mutation frequency | Nature of mutation | Cancer type | |
SND1 | staphylococcal nuclease and tudor domain containing 1 | 4/93 | 4.3% | Missense,inframe insertion | Ovarian carcinoma’ primitive neuroestodermal tumour- medulloblastoma, laryngeal carcinoma |
LRRC4 | leucine rich repeat containing 4 | 4/154 | 2.6% | Missense,inframe deletion | Glioma, breast carcinoma, colon carcinoma, pancreatic carcinoma |
LEP | leptin | 0/90 | 0% | N/A | N/A |
RBM28 | RNA binding motif protein 28 | 2/92 | 2.2% | Missense, | Ovarian carcinoma |
IMPDH1 | IMP (inosine 5'-monophosphate) dehydrogenase 1 | 5/231 | 2.2% | Missense, | Skin melanoma, glioma, lung carcinoma,Ovarian carcinoma |
METTL2A | methyltransferase like 2A | 2/250 | 0.8% | Missense, | Mouth squamous carcinoma, pharyngeal carcinoma |
FAM71F1 | family with sequence similarity 71, member F1 | 2/70 | 2.8% | Missense, nonsense | Skin melanoma, mouth squamous carcinoma |
CCDC136 | 2/25 | 8% | Missense, | Ovarian carcinoma | |
FLNC | filamin C, gamma | 7/142 | 4.9% | Missense, nonsense | Skin melanoma, breast carcinoma, primitive neuroestodermal tumour-medulloblastoma, colon carcinoma, ovarian carcinoma |
KCP | kielin/chordin-like protein | 0/68 | 0% | N/A | N/A |
IRF5 | interferon regulatory factor 5 | 0/217 | 0% | N/A | N/A |
TNPO3 | transportin 3 | 2/219 | 0.9% | Missense, nonsense | Skin melanoma, lung carcinoma |
ATP6V1F | ATPase, H+ transporting, lysosomal 14 kDa, V1 subunit F | 1/91 | 1% | Missense, | Ovarian carcinoma |
TSPAN33 | tetraspanin 33 | 1/91 | 1% | Missense, | Ovarian carcinoma |
SMO | smoothened, frizzled family receptor | 32/2436 | 1.3% | Missense,Inframe insertion | Skin basal cell carcinoma, primitive neuroestodermal tumour- medulloblastoma, lung carcinoma, colon carcinoma, glioma, bile duct carcinoma |
AHCYL2 | adenosylhomocysteinase-like 2 | 3/71 | 4.2% | Missense, nonsense | laryngeal carcinoma, ovarian carcinoma |
NRF1 | nuclear respiratory factor 1 | 1/91 | 1% | Missense | Ovarian carcinoma |
UBE2H | ubiquitin-conjugating enzyme E2H | 1/217 | 0.5% | N/A | N/A |
ZC3HC1 (NIPA) | zinc finger, C3HC-type containing 1 | 0/90 | 0% | N/A | N/A |
KLHDC10 | kelch domain containing 10 | 0/90 | 0% | N/A | N/A |
TMEM209 | transmembrane protein 209 | 2/92 | 2.2% | Missense, | Ovarian carcinoma, colon carcinoma |
CPA2 | carboxypeptidase A2 (pancreatic) | 1/92 | 1% | Missense, | Mouth squamous carcinoma |
CPA4 | carboxypeptidase A4 | 3/517 | 0.6% | Missense, nonsense | laryngeal carcinoma, ovarian carcinoma |
CPA5 | carboxypeptidase A5 | 2/93 | 2.1% | Missense, nonsense | Ovarian carcinoma |
MEST | mesoderm specific transcript homolog | 2/516 | O.6% | Missense, nonsense | Ovarian carcinoma |
TSGA13 | testis specific, 13 | 3/93 | 3.2% | Missense, | laryngeal carcinoma, ovarian carcinoma |
KLF14 | Kruppel-like factor 14 | 1/91 | 1% | Missense, | Mouth squamous carcinoma |
From the COSMIC database (http://www.sanger.ac.uk/genetics/CGP/cosmic/).