PhenoModifier-Gene Detail

Gene "OGG1"

Found 2 records

Gene information

Gene symbol:

OGG1

See related:

Ensembl: ENSG00000114026, Gene ID: 4968

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	ADA SACM1L DDX31 DBT HIST2H4B ELP2 BRSK1 RPS11 MAF1 PABPN1 GLIPR2 EPS15 TRMU KMO USP35 FA2H XRCC3 AADAT GOLT1A UNC50 LSM1 VAC14 SPRYD3 RTF1 NAALAD2 ALDH16A1 XPO5 SLC25A21 PTPRN2 RRP8 PRDX5 RPL29 RPSA GPD1L MAP3K4 CCNA2 SNX2 ROMO1 MELK CRLS1 KDM4A UBE2D3 DGAT1 RPS7 SLC39A14 MOCS3 ARHGAP35 CYB5R1 THUMPD1 CTSE PRKAG2 ZFAND1 LARP7 NKTR VRK1 DNAJC17 MSH4 EMC1 YPEL2 FHIT HK2 PPEF2 XPOT RPS6KA1 PPIL6 LSM7 DPYSL2 SLC25A44 HELLS FAF1 FIGNL2 PPP6C SLC12A8 show allhide
Negative interactions	RNASEH2A PKMYT1 XPA HCFC2 RPS25 UBE2V2 PUM3 MGMT PM20D1 CFDP1 PEX13 UBXN7 XPC PITRM1 MON1B UBC BRSK1 SEL1L ATG3 ARIH1 CTSA GEN1 RPL9 EEF1A2 TALDO1 GUF1 HSPA13 RPSA ARL9 ARHGEF2 RPL31 ELOVL1 CSNK2B SBF1 DYNC2H1 PMS1 TEX261 DNPEP CCNA2 DCUN1D5 TOMM70 MTHFS OSBPL10 PPCDC GLRX2 AP1G1 PCBP3 XPNPEP2 DUS4L GCLC show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1) ,Penetrance(1)

Modifier effect:

Altered incidence(1) ,Risk factor(1)

Details：

Variant 1:

OGG1:p.Arg154His

Gene:

OGG1

Genomic location:

dbSNP ID:

Target disease:

Colorectal Cancer(DOID_9256)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

OR=3.586, P= 0.053

Effect:

OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.

Reference:

PMID15449173

Title:

Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.

Species studied:

Human

Abstract:

MYH, OGG1 and MTH1 are members of base excision repair (BER) families, and MYH germline mutations were recently identified in patients with multiple adenomas or familial adenomatous polyposis (FAP). A total of 20 APC-negative Korean FAP patients were analyzed for OGG1, MYH and MTH1 germline mutations. A total of 19 hereditary nonpolyposis colorectal cancer (HNPCC), 86 suspected HNPCC, and 246 sporadic colorectal cancer cases were investigated for OGG1 and MYH mutations. A total of 14 R154H OGG1 polymorphisms were identified in hereditary, sporadic colorectal cancers, and normal controls. For the case-control analysis of OGG1 R154H, a total of 625 hereditary or sporadic colorectal cancer patients and 527 normal controls were screened. R154H was a rare polymorphism associated with sporadic colorectal cancer patents (OR: 3.586, P= 0.053). R154H does not segregate with cancer phenotypes. Upon examining the possibility of recessive inheritance of R154H, we could not identify any complementary mutations in OGG1, MYH or MTH1. Samples with R154H were further screened for mutations of K-ras, beta-catenin, APC, p53, BRAF and the microsatellite instability (MSI) status. Eight somatic mutations were identified in these genes and G:C to T:A transversion mutations were not dominant in samples harboring R154H. This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.
Variant 2:

OGG1:c.*2246G>A

Gene:

OGG1

Genomic location:

chr3:9801080

dbSNP ID:

rs2304277

Target disease:

Ovarian Cancer(DOID_2394)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

P=0.023

Effect:

rs2304277 variant in the OGG1 glycosidase gene of the Base Excision Repair pathway can increase ovarian cancer risk in BRCA1 mutation carriers.

Reference:

PMID27015555

Title:

Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.

Species studied:

Human

Abstract:

We have recently shown that rs2304277 variant in the OGG1 glycosidase gene of the Base Excision Repair pathway can increase ovarian cancer risk in BRCA1 mutation carriers. In the present study, we aimed to explore the role of this genetic variant on different genome instability hallmarks to explain its association with cancer risk.We have evaluated the effect of this polymorphism on OGG1 transcriptional regulation and its contribution to telomere shortening and DNA damage accumulation. For that, we have used a series of 89 BRCA1 and BRCA2 mutation carriers, 74 BRCAX cases, 60 non-carrier controls and 23 lymphoblastoid cell lines (LCL) derived from BRCA1 mutation carriers and non-carriers.We have identified that this SNP is associated to a significant OGG1 transcriptional down regulation independently of the BRCA mutational status and that the variant may exert a synergistic effect together with BRCA1 or BRCA2 mutations on DNA damage and telomere shortening.These results suggest that this variant, could be associated to a higher cancer risk in BRCA1 mutation carriers, due to an OGG1 transcriptional down regulation and its effect on genome instability.