Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.740 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.740 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: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.740 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs11571833
rs11571833
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.740 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013