Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571833
rs11571833
0.720 GeneticVariation BEFREE The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer</span> (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). 26586665

2016

dbSNP: rs11571833
rs11571833
0.720 GeneticVariation BEFREE However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. 29767749

2018

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE Moreover, stratified analyses by the cancer type and source of control observed significantly increased risk associated with BRCA2 N372H in subgroups with ovarian cancer, non-Hodgkin lymphoma and population-based controls, but not breast cancer or hospital-based controls. 25348552

2014

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE The HH genotype of the nonconservative amino acid substitution polymorphism N37</span>2H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. 15668505

2005

dbSNP: rs144848
rs144848
0.040 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

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE We have examined whether BRCA2 N372</span>H or common amino acid-changing polymorphisms in BRCA1 predispose to ovarian cancer. 14555511

2003

dbSNP: rs55854959
rs55854959
0.010 GeneticVariation BEFREE Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. 20437199

2010

dbSNP: rs876658943
rs876658943
0.010 GeneticVariation BEFREE The association between BRCA2 Arg372His polymorphism and ovarian cancer susceptibility was calculated using pooled odds ratios (ORs) appropriately derived from fixed effects models. 26111274

2015

dbSNP: rs1566215870
rs1566215870
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566231316
rs1566231316
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507591
rs397507591
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507608
rs397507608
A 0.700 CausalMutation CLINVAR

dbSNP: rs587781506
rs587781506
A 0.700 CausalMutation CLINVAR

dbSNP: rs80358785
rs80358785
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359027
rs80359027
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359277
rs80359277
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359439
rs80359439
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359596
rs80359596
A 0.700 CausalMutation CLINVAR

dbSNP: rs869320800
rs869320800
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004

dbSNP: rs886040423
rs886040423
AG 0.700 CausalMutation CLINVAR

dbSNP: rs11571818
rs11571818
C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016

dbSNP: rs1566244975
rs1566244975
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566260318
rs1566260318
C 0.700 GeneticVariation CLINVAR

dbSNP: rs276174868
rs276174868
C 0.700 CausalMutation CLINVAR

dbSNP: rs80359405
rs80359405
C 0.700 CausalMutation CLINVAR