PhenoModifier-Gene Detail

Gene "ERCC4"

Found 1 record

Gene information

Gene symbol:

ERCC4

See related:

Ensembl: ENSG00000175595, Gene ID: 2072

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	ZFP42 MYO15B PPP6R3 PSMA4 BUD31 HLTF NF1 IDH3A REXO2 ALG12 XRN1 SORD RPL6 UBL5 SLC38A7 GEN1 PUM1 TBC1D30 ZFP36L2 HGS TESC USP33 DNAJC17 CMBL ZCCHC7 BRDT KIF4B GGT7 XPO5 GLRX3 RBMX2 TMED9 CHTF18 PFKFB2 DNM1L XPNPEP3 RAB6B WDR45B IDH2 TOP1 MEMO1 TMEM165 EIF2D TRNAU1AP PAQR3 ELP2 TOM1 MBOAT4 PTPA SLC25A28 SLC2A10 WDR26 PAAF1 VPS8 GCLC HSPA4L CAPZB SPRYD3 ZC3H15 TKFC PPP3CC NEDD8 show allhide
Negative interactions	SACM1L TTF2 PLAA WRN SLC30A8 EEF2 SAC3D1 RPS6 RPL4 SOD2 APEX2 BIN3 RPL37 CS RER1 KIF2C USP10 SLC35B1 LIPT2 SLC25A1 ELOVL1 TYW3 RBBP5 GUF1 PDHA2 TRMT11 ADHFE1 METTL1 MTO1 RPL37A ZDHHC18 H3F3C PPP6R3 COX6B2 RPL17-C18orf32 RNF139 ETFDH GOLPH3L H2AFX UNG SEL1L TRMT1L SCP2 MAPK11 ARHGAP29 EVI5 TREH CHD1L ZNF598 SCYL2 GAPDH RPS7 MRS2 RPL24 ATP13A3 RPL9 NSUN5 DLAT SFXN1 VAT1L SGPL1 MAN2C1 RHOT2 HIBCH KDM7A MTOR AP4S1 ALDH3B1 CSNK2B PSMD4 FKBP15 ARHGDIB show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Variant 1:

ERCC4:c.2505T>C(p.Ser835Ser)

Gene:

ERCC4

Genomic location:

chr16:14041958

dbSNP ID:

rs1799801

Target disease:

Breast Cancer(DOID_1612)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

2.6-fold risk (95% CI: 1.02-6.48)

Effect:

The combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(836)Ser genotypes might be associated with breast cancer risk in Korean women. Women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes.

Reference:

PMID15886521

Title:

Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer.

Species studied:

Human

Abstract:

To evaluate the relationship of genetic polymorphisms of ERCC2 and ERCC4 genes, both involved in nucleotide excision repair (NER), and the risk of breast cancer, a hospital-based case-control study was conducted in Korea. Histologically confirmed breast cancer cases (n = 574) and controls (n = 502) with no present or previous history of cancer were recruited from three teaching hospitals in Seoul during 1995-2001. Information on selected characteristics was collected by interviewed questionnaire. ERCC2 Asp(312)Asn (G>A) was genotyped by single-base extension assay and ERCC4 Ser(835)Ser (T>C) by dynamic allele-specific hybridization system. Although no significant association was observed between the genetic polymorphisms and the risk of breast cancer, women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes. The breast cancer risk increased as the number of at risk genotypes increased with a borderline significance (P for trend = 0.07). Interactive effect was also observed between ERCC4 genotype and body mass idnex (BMI) for the breast cancer risk; the ERCC4 C allele containing genotypes posed a 1.7-fold (95% CI: 0.96-2.93) breast cancer risk in obese women (BMI>25 kg/m(2)) with a borderline significance. Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women.