rs11571833, BRCA2

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. 26586665 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE We also found a rare nonsense variant in the BRCA2 gene (rs11571833), previously associated with cancer susceptibility but not with melanoma, which showed weak association with melanoma susceptibility in the Swedish population. 27074266 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE We also found a rare nonsense variant in the BRCA2 gene (rs11571833), previously associated with cancer susceptibility but not with melanoma, which showed weak association with melanoma susceptibility in the Swedish population. 27074266 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. 26586665 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 GeneticVariation BEFREE Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer. 27632928 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. 25838448 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE It is likely that the previous associations of increased cancer risks due to BRCA2c.9976A>T represent reporting bias and are contributed to because the variant is in LD with BRCA2c.6275_6276delTT. 26041759 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE It is likely that the previous associations of increased cancer risks due to BRCA2c.9976A>T represent reporting bias and are contributed to because the variant is in LD with BRCA2c.6275_6276delTT. 26041759 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. 25838448 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 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
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Malignant neoplasm of large intestine
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Endometrioid carcinoma ovary
CUI: C0346163
Disease: Endometrioid carcinoma ovary
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Ovarian Serous Adenocarcinoma
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.710 GeneticVariation BEFREE We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26). 29767749 2018