Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE In human NBS1 (hNBS1), Q185E polymorphism is known as the factor to cancer risks, although its DSB repair defect has not been addressed. 28107384 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE However, rs1805794, D95N and P266L did not appear to have an effect on cancer risk. 24113799 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE Our meta-analysis suggests that the NBS1 E185Q variant genotypes (8360 GC/CC) might be associated with an increased risk of cancer, especially in Caucasians. 19393077 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G>C, rs1805794) polymorphism has been indicated to be involved in the development of cancer, but results of previous individual studies on the association between NBS1 Glu185Gln polymorphism and breast cancer risk remain controversial and inconclusive. 23381647 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE The meta-analysis further confirmed the association between the variant rs1805794G>C and lung cancer risk, that compared with the GG genotype, the carriers of C genotypes had a 1.30-fold risk of cancer (95% CI=1.14-1.49, P=8.49×10(-5)). 25771871 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE In carriers of 657del5 deletion, the cancer risk was restricted to men with the GG genotype of the E185Q variant of the same gene. 30590007 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE In carriers of the 657del5 deletion, the elevated cancer risk was restricted to women with the GG genotype of the E185Q variant (OR = 3.6, 95% CI 1.9-6.6; p < 0.0001). 31410679 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.080 GeneticVariation BEFREE In conclusion, current evidence did not suggest that the NBS1 Glu185Gln polymorphism was associated with overall cancer risk, but this polymorphism might contribute to the risk for some specific cancer sites due to potential different mechanisms. 23979977 2014