rs8170, BABAM1;USHBP1

N. diseases: 13
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
0.850 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation BEFREE Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. 24528085 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation BEFREE Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). 23593120 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation GWASDB Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation GWASCAT Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation BEFREE Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). 22331459 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation BEFREE We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. 22351618 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation BEFREE Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). 20852631 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.850 GeneticVariation GWASCAT Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). 20852631 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation BEFREE Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. 24528085 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation BEFREE Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). 23593120 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation GWASDB Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation BEFREE We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. 22351618 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation BEFREE Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). 22331459 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation GWASDB Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). 20852631 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.750 GeneticVariation BEFREE Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). 20852631 2010
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.720 GeneticVariation BEFREE Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. 26747452 2016
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.720 GeneticVariation GWASCAT Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 25581431 2015
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.720 GeneticVariation BEFREE Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development. 20852633 2010
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 GeneticVariation GWASCAT GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 23535730 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 GeneticVariation BEFREE Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development. 20852633 2010
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.700 GeneticVariation GWASDB GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 23535730 2013
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.020 GeneticVariation BEFREE Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. 26747452 2016
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.020 GeneticVariation BEFREE In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. 22331459 2012