rs11249433, EMBP1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE A pericentromeric SNP on chromosome 1p11.2 (rs11249433; P = 6.74 x 10(-10) adjusted genotype test, 2 degrees of freedom) resides in a large linkage disequilibrium block neighboring NOTCH2 and FCGR1B; this signal was stronger for estrogen-receptor-positive tumors. 19330030 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. 27556229 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. 27556229 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.020 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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) rs11249433 in the 1p11.2 region as a novel genetic risk factor for breast cancer, and this association was stronger in patients with estrogen receptor (ER)+ versus ER- cancer. 20482849 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.020 GeneticVariation BEFREE This is the first study to show that the expression of NOTCH2 differs in subgroups of breast tumors and by genotypes of the breast cancer-associated SNP rs11249433. 20482849 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) rs11249433 in the 1p11.2 region as a novel genetic risk factor for breast cancer, and this association was stronger in patients with estrogen receptor (ER)+ versus ER- cancer. 20482849 2010
Invasive Ductal Breast Carcinoma
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811 2014
Noninfiltrating Intraductal Carcinoma
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811 2014