XRCC6, X-ray repair cross complementing 6, 2547

N. diseases: 119; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE While DSB repair is somewhat compromised in all leukemic subtypes, certain key players of DSB repair are particularly targeted: DNA-dependent protein kinase (DNA-PK) and Ku70/80 in the non-homologous end-joining pathway, as well as Rad51 and breast cancer 1/2 (BRCA1/2), key players in homologous recombination. 28471392 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE Ku 70/80 expression was determined in 188 well-characterized formalin-fixed, paraffin-embedded (FFPE) BC samples using tissue microarray and immunohistochemistry. 27914769 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE There was no association between T-991C polymorphism of XRCC6 and breast cancer risk. 24615008 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Subgroup analyses based on the cancer type, ethnicity, and source of the controls were also performed, and these results indicated that the XRCC6 promoter rs2267437 polymorphism was associated with cancer risk in breast cancer studies (GG vs. CC: OR=1.79, 95% CI=1.25-2.56; GG vs. CG+CC: OR=1.40, 95% CI=1.01-1.95), in Asian populations (GG vs. CC: OR=1.33, 95% CI=1.01-1.74) and in population-based studies (GG vs. CC: OR=1.57, 95% CI=1.12-2.22; CG vs. CC: OR=1.35, 95% CI=1.11-1.64; GG+CG vs. CC: OR=1.37, 95% CI=1.14-1.65). 23745766 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Meta-analysis results showed that rs3835 (G>A) and rs828907 (G>T) in XRCC5 gene, and rs132793 (G>A) in XRCC6 gene might increase the risk of breast cancer, while rs132788 G>T and rs6002421 (A>G) might be protective factors. 23098447 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Our data provide a possible molecular explanation for the associations observed between the KU70 regulatory variant rs2267437 and breast cancer risk. 22833453 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Our study suggests that the Ku70 -1310C/G promoter polymorphism may be a susceptibility factor for breast cancer in Chinese Han population. 21556760 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE These results show that the variant allele of c.-1310 C>G, located in the Ku70 promoter, is a risk allele for breast cancer. 19219618 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Nerve growth factor receptor TrkA signaling in breast cancer cells involves Ku70 to prevent apoptosis. 17617666 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Support for these hypotheses came from the observations that (a) two SNPs in Ku70 and XRCC4 were associated with breast cancer risk (P < 0.05); (b) a trend toward increased risk of developing breast cancer was found in women harboring a greater number of putative high-risk genotypes of NHEJ genes (an adjusted odds ratio of 1.46 for having one additional putative high-risk genotype; 95% confidence interval, 1.19-1.80); (c) this association between risk and the number of putative high-risk genotypes was stronger and more significant in women thought to be more susceptible to estrogen, i.e., those with no history of full-term pregnancy; and (d) the protective effect conferred by a history of full-term pregnancy was only significant in women with a lower number of putative high-risk genotypes of NHEJ genes. 12750264 2003