Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.750 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
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
T 0.750 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730

2017

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.750 GeneticVariation BEFREE Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer. 27632928

2016

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
T 0.750 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.750 GeneticVariation BEFREE Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM). 26264438

2016

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.750 GeneticVariation BEFREE We did not identify increased frequencies of oesophageal, pancreatic or lung cancer in families with just BRCA2 c.9976A>T using person-years at risk analysis. 26041759

2015

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.750 GeneticVariation BEFREE We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). 24880342

2014

dbSNP: rs11571833
rs11571833
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
T 0.750 GeneticVariation GWASCAT We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). 24880342

2014