Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Eight PVs in ATM, BRCA2 (x2), PALB2, RAD51D, BRIP1, and MUTYH (x2) were identified in 7 of 44 individuals with breast cancer (15.9%, 95% CI: 7-30%), whereas none were identified in healthy controls (p = .01). 31575519

2020

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Significant association to BC predisposition was observed for <i>ATM, PALB2, TP53, RAD51C</i> and <i>CHEK2</i> PVs. 31300551

2020

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE After Bonferroni correction (P ≤ 1.3 × 10-5), the strongest associations were detected in five pathways and gene sets, including maturity-onset diabetes of the young, regulation of beta-cell development, role of epidermal growth factor (EGF) receptor transactivation by G protein-coupled receptors in cardiac hypertrophy pathways, and the Nikolsky breast cancer chr17q11-q21 amplicon and Pujana ATM Pearson correlation coefficient (PCC) network gene sets. 30541042

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE We therefore investigated the spectrum and clinical characteristics of ATM germline mutations in Chinese breast cancer patients. 30607632

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Our findings identified a novel mutation that disrupts ATM function, conferring to breast cancer risk. 31160347

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 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

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Loss of one or both alleles of ATM results in an increased risk of cancer development, particularly haematopoietic cancer and breast cancer in both humans and mouse models. 31565865

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Germline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53). 31206626

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44). 30128536

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression BEFREE Tumours with low ATM or high ATR levels in conjunction with MYC overexpression also have worse overall breast cancer-specific survival (BCSS) (p value < 0.05). 30746633

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE Immunohistochemical analysis included nuclear exclusion of FOXO3 as a marker of follicle activation, γH2AX as a marker of DNA damage, meiotic recombination 11 (MRE11), ataxia telangiectasia mutated (ATM), Rad51, breast cancer susceptibility 1 (BRCA1) and breast cancer susceptibility 2 (BRCA2) as DNA repair factors. 30521029

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE PP2Cδ inhibits p300-mediated p53 acetylation via ATM/BRCA1 pathway to impede DNA damage response in breast cancer. 31663018

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE In addition, overall survival and recurrence-free survival analysis revealed the close associations of the expression of GATA3, NCOR1, CDH1, and ATM with survival of BC patients. 30883028

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D. 30552672

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2, and ATM; a PRS based on 313 single-nucleotide polymorphisms (SNPs) explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs; and mammographic density, while allowing for missing information. 30643217

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE Most data were available for DDR panels (n=12 studies), ataxia telangiectasia mutated (ATM; n=13), breast cancer susceptibility gene (BRCA)1 (n=14) and BRCA2 (n=20). 31322208

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Not only AT patients, but also certain ATM heterozygous mutation carriers show a significantly reduced life expectancy due to cancer and ischemic heart disease; in particular, female carriers having particular alleles have an increased risk of breast cancer. 31443742

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer. 30933323

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE Oxidized ATM-mediated glycolysis enhancement in breast cancer-associated fibroblasts contributes to tumor invasion through lactate as metabolic coupling. 30799198

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE Intracellular citrate accumulation by oxidized ATM-mediated metabolism reprogramming via PFKP and CS enhances hypoxic breast cancer cell invasion and metastasis. 30850587

2019

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE Five- hit hypothesis in ATM gene: An individualized model in a breast cancer patient. 29293464

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression BEFREE Loss of ATM expression or inhibiting oxidized ATM kinase activity reduced breast cancer cell migration and invasion. 30562756

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression BEFREE Our findings suggest that Triptolide specifically chemosensitizes breast cancer cells to Doxorubicin prior to apoptosis initiation through downregulating ATM expression and inhibiting DNA damage response. 29500880

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker BEFREE Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. 29396668

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation BEFREE The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. 29665859

2018