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. 2012 Sep 13;7(9):e44997. doi: 10.1371/journal.pone.0044997

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/).