PhenoModifier-Gene Detail

Gene "XRCC3"

Found 1 record

Gene information

Gene symbol:

XRCC3

See related:

Ensembl: ENSG00000126215, Gene ID: 7517

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	CHMP3 FIS1 ATXN2 PRKAG2 SFN PIGG RAD54L VPS35 SDHB GGPS1 WRN MRS2 MPC1 AP3D1 RBM34 COQ2 RPL22L1 DYNC2H1 MRS2 MAEA MECOM RAD52 ASH1L SGTB RPL6 PPCDC PFDN4 RPEL1 NME1-NME2 TBC1D22A ARL13B CCDC25 THADA XRN1 RPS7 RAD51 PDCD6IP WDR6 CSNK2B HAAO PRDX5 PDIA5 ALDH6A1 MLH1 RAB5B TALDO1 CS TPT1 CORO2B TBC1D30 PA2G4 IDO1 ACER3 URM1 TMED9 GUF1 NSUN5 RPL38 EEF1A2 HIST2H4B AK4 MARCH6 AP2A2 CCNA2 DRG1 TRIT1 NIF3L1 show allhide
Negative interactions	GEN1 PRDX1 LIPT1 GTPBP3 PLAA REV3L BCS1L POLI SC5D PDHA2 SACM1L GPX7 ARFGAP1 FASN NFYB CYC1 ATP23 SLC25A28 TTF2 PDHB HELLS SIN3A IMMP2L RCOR1 USP33 PRELID3A FA2H BCAT1 DDX11 ELOVL1 CCNA2 CYB5RL MTHFD2L LIPM BRSK1 CHCHD2 ZNF622 SUB1 DICER1 TBK1 FOXJ3 CNIH3 RPS23 HHATL SLC25A28 ACSS3 ZNF598 PRKG2 SIRT4 ACER3 ETFDH NRDC DOHH MAPK7 SRM GOLPH3L PIAS1 SLC25A4 TDP1 CLPX PBLD ATP7B SLC25A19 HAGHL UPF2 MOGS SCAP ABCB9 TKFC SMPDL3B TYW1 RHEB MTHFS EDF1 CHAF1B RPL17-C18orf32 REXO5 PPP6R3 ZGRF1 RPL23 RPL29 SRXN1 SIRT2 ORMDL2 SEL1L show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Variant 1:

XRCC3:c.722C>T(p.Thr241Met)

Gene:

XRCC3

Genomic location:

chr14:104165753

dbSNP ID:

rs861539

Target disease:

Hereditary Breast Cancer(Orphanet_227535)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

OR=2.21, 95% CI: 1.42-3.44; P<0.001

Effect:

XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer

Reference:

PMID17063276

Title:

DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population.

Species studied:

Human

Abstract:

The purpose of this study was to evaluate the role of polymorphisms in DNA repair genes as genetic indicators of susceptibility to familial and sporadic breast cancer. We analysed DNA samples from 285 breast cancer patients and 442 control subjects, for XRCC1 Arg399Gln, XPD Lys751Gln, RAD51 G135C and XRCC3 Thr241Met polymorphisms using PCR-RFLP. We observed that women carriers of XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease (OR = 0.54 95% CI 0.35-0.84; p = 0.006). Furthermore, we found that carriers of XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer (OR = 2.21 95% CI 1.42-3.44; p < 0.001). Additionally, we verified an increased risk of breast cancer in women with FH and carrying RAD51 135C genotypes (OR = 2.17 95% CI 1.19-3.98; p = 0.012). Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.