rs11571833, BRCA2

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.750 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.750 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.750 GeneticVariation GWASDB 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. 26586665 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. 26586665 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. 25838448 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. 26041759 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk. 26455428 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk. 26455428 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation BEFREE Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. 26041759 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. 25838448 2015