Variant "OGG1:c.*2246G>A"
Search result: 1 record
Variant information
Gene:
OGG1 
Variant:
OGG1:c.*2246G>A 
Genomic location:
chr3:9801080(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002542.5:c.*2246G>A
protein_coding NM_016819.3:c.*2553G>A
protein_coding NM_016820.3:c.*2068G>A
protein_coding NM_016821.2:c.948+2580G>A
protein_coding NM_003656.4:c.912+92C>T
protein_coding NM_016826.2:c.747+4511G>A
protein_coding NM_016827.2:c.566-6413G>A
protein_coding NM_016828.2:c.1048+110G>A
protein_coding NM_016829.2:c.*32+110G>A
show all
dbSNP ID:
rs2304277  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.