rs11571833, BRCA2

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.710 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.710 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
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.720 GeneticVariation BEFREE More importantly, rare, deleterious germline variants were enriched in <i>Fanconi anemia</i> genes even without the <i>BRCA2</i> rs11571833 variant that is strongly enriched in lung SqCC cases (joint OR = 2.76; <i>P</i> = 7.0e-04; 95% CI, 1.6-4.7). 30425093 2019
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.720 GeneticVariation BEFREE Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin. 29767749 2018
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
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
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.720 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.720 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.720 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
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.720 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.720 GeneticVariation GWASCAT Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.740 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013