Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801516
rs1801516
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Homozygote carriers of the G5557A variant were over-represented in RS-BC cases compared with non-RS-BC cases (OR, 6.76; 95% CI, 1.19-38.43). 14695186

2003

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Homozygote carriers of the G5557A variant were over-represented in RS-BC cases compared with non-RS-BC cases (OR, 6.76; 95% CI, 1.19-38.43). 14695186

2003

dbSNP: rs1801516
rs1801516
ATM
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 GeneticVariation BEFREE No associations were found between the IVS38-8 T/C, 5557 G/A and 5558 A/T polymorphisms and microhaplotypes in the ATM gene with respect to sporadic rectal cancer. 12827413

2004

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation BEFREE Based on the results, we propose a cancer risk-modifying effect for the ATM 5557G-->A, IVS38-8T-->C composite allele. 15756685

2005

dbSNP: rs1801516
rs1801516
ATM
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 GeneticVariation BEFREE Based on the results, we propose a cancer risk-modifying effect for the ATM 5557G-->A, IVS38-8T-->C composite allele. 15756685

2005

dbSNP: rs1801516
rs1801516
ATM
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
0.020 GeneticVariation BEFREE We discovered that the combination of 5557G-->A in cis position with IVS38-8 T-->C was associated with bilateral breast cancer (OR = 10.2; 95% CI = 3.1-33.8; p = 0.001). 15756685

2005

dbSNP: rs1801516
rs1801516
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer. 16914028

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer. 16914028

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy. 16338099

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy. 16338099

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation BEFREE Neither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. 16914028

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
0.020 GeneticVariation BEFREE Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer. 16914028

2006

dbSNP: rs1801516
rs1801516
ATM
CUI: C0678222
Disease: Breast Carcinoma
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

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in brea</span>st cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021). 18433505

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in brea</span>st cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021). 18433505

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
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

dbSNP: rs1801516
rs1801516
ATM
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 GeneticVariation BEFREE The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype alone or in combination with certain genetic background and/or environmental factors, could modify the cancer risk by increasing genetic instability or by altering the effect of the normal DNA damage response. 18433505

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 GeneticVariation BEFREE The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype alone or in combination with certain genetic background and/or environmental factors, could modify the cancer risk by increasing genetic instability or by altering the effect of the normal DNA damage response. 18433505

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 GeneticVariation BEFREE We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T --> A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A --> G as a third hit through the development of an astrocytoma. 18465141

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.010 GeneticVariation BEFREE We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T --> A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A --> G as a third hit through the development of an astrocytoma. 18465141

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.010 GeneticVariation BEFREE The polymorphism D1853N was reported in healthy individuals and medulloblastomas. 18465141

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
0.010 GeneticVariation BEFREE Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor. 18465141

2008

dbSNP: rs1801516
rs1801516
ATM
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE The ATM G5557A and XRCC1 Arg399Gln polymorphisms, regardless of radiation exposure, associated with a decreased risk of PTC according to the multiplicative and dominant models of inheritance (odds ratio (OR) = 0.69, 95% confidence interval (CI) 0.45-0.86 and OR = 0.70, 95% CI 0.59-0.93 respectively). 19286843

2009

dbSNP: rs1801516
rs1801516
ATM
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE A statistically significant interaction of ATM D1853N and LIG4 C54T genotype with diabetes on the risk of pancreatic cancer was also detected. 19147782

2009

dbSNP: rs1801516
rs1801516
ATM
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE A statistically significant interaction of ATM D1853N and LIG4 C54T genotype with diabetes on the risk of pancreatic cancer was also detected. 19147782

2009