rs11249433, EMBP1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). 27556229 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. 27556229 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 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
0.770 GeneticVariation BEFREE Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH2 and FCGR1B genes within the 1p11.2 locus, is more strongly associated with risk of breast tumors with low or absent E-cadherin expression, and suggest that evaluation of E-cadherin tumor tissue expression may be useful in clarifying breast cancer risk factor associations. 24292867 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH2 and FCGR1B genes within the 1p11.2 locus, is more strongly associated with risk of breast tumors with low or absent E-cadherin expression, and suggest that evaluation of E-cadherin tumor tissue expression may be useful in clarifying breast cancer risk factor associations. 24292867 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Our findings demonstrated that rs11249433-G allele is a risk-conferring factor for the development of breast cancer, especially in Caucasians. 23977314 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE In conclusion, this meta-analysis demonstrated that the G allele of 1p11-rs11249433 is a risk factor associated with increased breast cancer susceptibility, but these associations vary in different ethnic populations. 23977306 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE In conclusion, this meta-analysis demonstrated that the G allele of 1p11-rs11249433 is a risk factor associated with increased breast cancer susceptibility, but these associations vary in different ethnic populations. 23977306 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Our findings demonstrated that rs11249433-G allele is a risk-conferring factor for the development of breast cancer, especially in Caucasians. 23977314 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). 21593217 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). 21593217 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92-1.57). 21738711 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92-1.57). 21738711 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation BEFREE Further studies are needed to investigate possible mechanisms of regulation of NOTCH2 expression by rs11249433 and the role of NOTCH2 splicing forms in breast cancer</span> development. 20482849 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Further studies are needed to investigate possible mechanisms of regulation of NOTCH2 expression by rs11249433 and the role of NOTCH2 splicing forms in breast cancer</span> development. 20482849 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation GWASDB A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.770 GeneticVariation GWASCAT A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030 2009
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Further, among carriers of rs11249433, the highest risk was seen for E-cadherin low tumors that were ER-positive and of lobular histology. 24292867 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility and confer its effect primarily in estrogen receptor-positive and progesterone receptor-positive tumors. 23977306 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE In addition, we found that rs11249433 polymorphism on 1p11 confer risk, exclusively for ER-positive tumors with per-allele OR of 1.13 (95% CI: 1.08-1.18; P <10(-5)) compared to ER-negative tumors of 1.01 (95% CI: 0.98-1.04; P=0.49). 23977314 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Therefore, increased expression of NOTCH2 in carriers of rs11249433 may promote development of ER+ luminal tumors. 20482849 2010