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
0.060 GeneticVariation BEFREE The meta-analysis suggests that the BRCA2 rs144848 polymorphism may play a role in cancer</span> risk. 28418854 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.060 GeneticVariation BEFREE The subgroup analysis for serous cancer subgroup showed that the significant association could be detected under recessive model (OR = 1.38, 95% CI, 1.01-1.89, P = 0.04) and under homozygote comparison (OR = 1.46, 95% CI, 1.06-2.01, P = 0.022).Our meta-analysis suggests that the N372H polymorphism is associated with susceptibility of ovarian cancer. 26496279 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.060 GeneticVariation BEFREE The results indicated that the BRCA2 N372H variant was significantly associated with an increased risk of overall cancer</span> (dominant model: OR = 1.07, 95% CI = 1.01-1.13; recessive model: OR = 1.12, 95% CI = 1.02-1.23). 25348552 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.060 GeneticVariation BEFREE We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395). 18024013 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.060 GeneticVariation BEFREE We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population. 15668505 2005
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.060 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039 2002