Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897701
rs28897701
0.700 GeneticVariation UNIPROT

dbSNP: rs41293521
rs41293521
0.700 GeneticVariation UNIPROT

dbSNP: rs4987046
rs4987046
0.700 GeneticVariation UNIPROT

dbSNP: rs56070345
rs56070345
0.700 GeneticVariation UNIPROT

dbSNP: rs587781803
rs587781803
A 0.700 CausalMutation CLINVAR

dbSNP: rs80358479
rs80358479
0.700 GeneticVariation UNIPROT

dbSNP: rs80358981
rs80358981
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359078
rs80359078
0.700 GeneticVariation UNIPROT

dbSNP: rs80359176
rs80359176
0.700 GeneticVariation UNIPROT

dbSNP: rs80359477
rs80359477
G 0.700 CausalMutation CLINVAR

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: rs11571833
rs11571833
0.020 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: rs11571833
rs11571833
0.020 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: 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: rs80358721
rs80358721
0.010 GeneticVariation BEFREE Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation. 19654294

2009

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