rs1801516, ATM

N. diseases: 39
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
melanoma
CUI: C0025202
Disease: melanoma
0.810 GeneticVariation BEFREE Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. 23537197 2013
melanoma
CUI: C0025202
Disease: melanoma
0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
melanoma
CUI: C0025202
Disease: melanoma
0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE These results do not support an impact of ATM rs1801516 on late skin reactions of radiotherapy for breast cancer, nevertheless further large studies are still required for conclusive evidences. 31756226 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE These results do not support an impact of ATM rs1801516 on late skin reactions of radiotherapy for breast cancer, nevertheless further large studies are still required for conclusive evidences. 31756226 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). 30194396 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). 30194396 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Four SNPs [rs3218550 (XRCC2), rs6917 (PHB), rs1801516 (ATM), and rs13689 (CDH1)] were significantly associated with risk of breast cancer. 29433565 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE After adjustment, rs189037 and rs1801516 were significantly associated with breast cancer under the additive model (OR: 1.37 and 1.52, 95% CI: 1.10-1.71 and 1.14-2.04, P: .005 and .005, respectively). 29691986 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE After adjustment, rs189037 and rs1801516 were significantly associated with breast cancer under the additive model (OR: 1.37 and 1.52, 95% CI: 1.10-1.71 and 1.14-2.04, P: .005 and .005, respectively). 29691986 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Four SNPs [rs3218550 (XRCC2), rs6917 (PHB), rs1801516 (ATM), and rs13689 (CDH1)] were significantly associated with risk of breast cancer. 29433565 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer. 25014427 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer. 25014427 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians. 21603857 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians. 21603857 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer. 20396981 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer. 20396981 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We observed that the ATM 5557G>A polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (recessive model: odds ratio, OR = 0.67; 95% confidence interval (CI) 0.51-0.89). 20665102 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE We observed that the ATM 5557G>A polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (recessive model: odds ratio, OR = 0.67; 95% confidence interval (CI) 0.51-0.89). 20665102 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer. 20799949 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer. 20799949 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE The results of this study might suggest a minor association between polymorphism 5557G>A and a reduced risk of breast cancer. 18264724 2008