Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker CTD_human

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE Analysis of loss of heterozygosity (LOH) in 18 breast tumors from women carrying likely pathogenic rare sequence variants revealed no consistent pattern of loss of the ATM variant. 21787400

2011
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? 18557994

2008
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Association of common ATM variants with familial breast cancer in a South American population. 18433505

2008
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences? 17351744

2008
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM and breast cancer susceptibility. 16998505

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM missense mutations are frequent in patients with breast cancer. 12935922

2003
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM mutations in Finnish breast cancer patients. 11897822

2002
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 16832357

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN ATM variants and cancer risk in breast cancer patients from Southern Finland. 16914028

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. 15390180

2005
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Cancer risks and mortality in heterozygous ATM mutation carriers. 15928302

2005
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. 17001622

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN Consortium piecing together role of ATM gene in breast cancer. 11830600

2002
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Constitutional alterations of the ATM gene in early onset sporadic breast cancer. 12362033

2002
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Contributions of ATM mutations to familial breast and ovarian cancer. 12810666

2003
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Dominant negative ATM mutations in breast cancer families. 11830610

2002
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls. 11996792

2002
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. 17166884

2007
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 AlteredExpression BEFREE Fifty-two breast tumors from 51 patients, 38 of them with concomitant in situ component (CIS), were analyzed by immunohistochemistry for the expression of ATM. 16329039

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 AlteredExpression LHGDN Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression. 16636671

2006
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation BEFREE Loss of heterozygosity (LOH) in the ATM region of chromosome 11q23.1 showed that the normal ATM allele was lost in the breast tumor of the older sister. 10571946

1999
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 AlteredExpression BEFREE Loss of heterozygosity at the ATM locus has been reported in 30-40% of breast tumours and 50-70% show altered ATM protein levels. 16112413

2005
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 GeneticVariation LHGDN Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335

2002