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 The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. 8665503

1996
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker BEFREE We also studied breast tumors from ATM mutants, and three showed retention of both alleles, whereas the fourth showed loss of the mutant allele. 9537233

1998
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 GeneticVariation BEFREE We screened a cohort of 173 nonselected primary breast tumors for LOH in a 4 cM region at 11q23 spanning the ATM gene. 11793440

2002
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
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 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 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 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 Re: Dominant negative ATM mutations in breast cancer families. 12072552

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 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 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 PosttranslationalModification LHGDN These findings indicate that epigenetic silencing of ATM expression occurs in locally advanced breast tumors, and establish a link at the molecular level between reduced ATM function and sporadic breast malignancy. 15516988

2004
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 PosttranslationalModification BEFREE These findings indicate that epigenetic silencing of ATM expression occurs in locally advanced breast tumors, and establish a link at the molecular level between reduced ATM function and sporadic breast malignancy. 15516988

2004
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 Biomarker LHGDN Two ATM variants and breast cancer risk. 15880680

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 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 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 LHGDN The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. 16652348

2006
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