Gene: ATM

Alternate names for this Gene: AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1

Gene Summary: The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder.

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.3

Description of this Gene: ATM serine/threonine kinase

Type of Gene: protein-coding

rs1057516238 in ATM gene and Ataxia Telangiectasia PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 23585524 2013 ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

PMID 21665257 2011 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 22006793 2012 Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

PMID 27884168 2016 Ataxia telangiectasia: a review.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 14695534 2004 Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 18497957 2008 Contribution of mutations in ATM to breast cancer development in the Czech population.

PMID 16411093 2006 Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 27671921 2016 Ataxia telangiectasia associated with nodular regenerative hyperplasia.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 9682216 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

PMID 30482293 2019 A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.

PMID 12655570 2003 Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 25122203 2014 The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

PMID 16387360 2006 Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele.

PMID 19147735 2009 Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 16014569 2005 Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.

PMID 17968022 2007 Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.

PMID 16864838 2006 Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

PMID 27871447 2016 Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

PMID 27873105 2017 Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 9450906 1998 Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

PMID 27980538 2016 Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 9121450 1997 Fragments of ATM which have dominant-negative or complementing activity.

PMID 16832357 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 17699107 2007 Ataxia telangiectasia-mutated dependent DNA damage checkpoint functions regulate gene expression in human fibroblasts.

PMID 12637545 2003 Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest.

PMID 8968760 1996 Ataxia-telangiectasia: founder effect among north African Jews.

PMID 27084275 2016 Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

PMID 8797579 1996 ATM mutations in cancer families.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 9781027 1998 Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.

PMID 9537233 1998 The role of ataxia-telangiectasia heterozygotes in familial breast cancer.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 27599564 2016 Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

PMID 11889466 2002 A new type of mutation causes a splicing defect in ATM.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 7792600 1995 A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

PMID 9150358 1997 Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 8589678 1995 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 9450874 1998 Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 15164409 2004 In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 23612382 2013 Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25303977 2014 Mutational landscape of aggressive cutaneous squamous cell carcinoma.

PMID 24789685 2014 Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

PMID 12497634 2003 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

PMID 9000145 1996 Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 24512911 2014 Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 15843990 2005 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 11606401 2001 Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.

PMID 18384426 2008 ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

PMID 10864201 2000 ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.

PMID 25077176 2014 A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 15928302 2005 Cancer risks and mortality in heterozygous ATM mutation carriers.

PMID 12072877 2002 Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

PMID 18502988 2008 ATM gene variants in patients with idiopathic perifoveal telangiectasia.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 23726790 2013 Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 20308662 2010 Child with ataxia telangiectasia developing acute myeloid leukemia.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 25101980 2014 Deoxycytidine kinase augments ATM-Mediated DNA repair and contributes to radiation resistance.

PMID 23652012 2013 SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

PMID 11298136 2001 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

PMID 23143971 2013 Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

PMID 20852892 2010 The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22763152 2013 Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

PMID 14970866 2004 Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.

PMID 25502423 2014 Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 26662178 2016 Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 9600235 1998 Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.

PMID 2491181 1989 ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

PMID 12673797 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 23566627 2013 Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

PMID 24090759 2013 Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

PMID 10677309 2000 ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 28956312 2017 Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017).

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 17376192 2007 Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 24422204 2014 Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 26439923 2015 Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 11756177 2002 ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

PMID 26506520 2015 Prevalence of deleterious ATM germline mutations in gastric cancer patients.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 23264026 2013 Newborn screening for SCID identifies patients with ataxia telangiectasia.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 24172824 2014 Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia.

PMID 22130802 2012 Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

PMID 26098866 2015 Loss-of-function variants in ATM confer risk of gastric cancer.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 23561644 2013 Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

PMID 25479140 2015 Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 23774824 2013 A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

PMID 21681852 2011 Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

PMID 11526498 2001 Activation of p53 transcriptional activity requires ATM's kinase domain and multiple N-terminal serine residues of p53.

PMID 21593342 2011 Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.

PMID 27528516 2016 Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

PMID 22927201 2012 A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

PMID 27989354 2017 Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

PMID 20678261 2010 Low levels of ATM in breast cancer patients with clinical radiosensitivity.

PMID 18174244 2008 Resveratrol modulates DNA double-strand break repair pathways in an ATM/ATR-p53- and -Nbs1-dependent manner.

PMID 21459046 2011 Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

PMID 25625042 2015 ATM gene mutations in sporadic breast cancer patients from Brazil.

PMID 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 16189143 2005 Molecular pathology of ataxia telangiectasia.

PMID 29665859 2018 Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

rs582297 in ATM gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs582297 in ATM gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519364 in ATM gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

PMID 27067391 2016 A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

rs3218688 in ATM gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3218688 in ATM gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1057516541 in ATM gene and Neoplastic Syndromes, Hereditary PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

PMID 27039262 2016 Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

PMID 14695534 2004 Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 22006793 2012 Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

PMID 24506781 2014 Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

PMID 20346647 2010 Discovering moderate-risk breast cancer susceptibility genes.

PMID 18497957 2008 Contribution of mutations in ATM to breast cancer development in the Czech population.

PMID 9682216 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

PMID 25793145 2015 Myoclonus in ataxia-telangiectasia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 11889466 2002 A new type of mutation causes a splicing defect in ATM.

PMID 27671921 2016 Ataxia telangiectasia associated with nodular regenerative hyperplasia.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 27553368 2016 Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 16411093 2006 Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

PMID 24568663 2015 Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 22520355 2012 Ataxia-telangiectasia presenting with a novel immunodeficiency.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 19770270 2009 Nonaminoglycoside compounds induce readthrough of nonsense mutations.

PMID 9450906 1998 Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

PMID 27980538 2016 Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 8968760 1996 Ataxia-telangiectasia: founder effect among north African Jews.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 12497634 2003 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 17540590 2007 Alpha fetoprotein is increasing with age in ataxia-telangiectasia.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 27599564 2016 Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 24789685 2014 Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 15164409 2004 Identification of two mutations for ataxia telangiectasia among the Druze community.

PMID 23612382 2013 Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 26506520 2015 Prevalence of deleterious ATM germline mutations in gastric cancer patients.

PMID 26182300 2015 Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 27276934 2017 The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 24512911 2014 Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.

PMID 21993670 2012 ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.

PMID 15843990 2005 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 28652578 2017 Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 25077176 2014 A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 18502988 2008 ATM gene variants in patients with idiopathic perifoveal telangiectasia.

PMID 17985259 2007 Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 23091097 2012 Biallelic ATM inactivation significantly reduces survival in patients treated on the United Kingdom Leukemia Research Fund Chronic Lymphocytic Leukemia 4 trial.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 29486991 2018 Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.

PMID 11298136 2001 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

PMID 12673797 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

PMID 11857346 2002 TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.

PMID 23143971 2013 Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 11821961 2002 Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif.

PMID 2491181 1989 ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 16832357 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

PMID 23566627 2013 Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

PMID 10677309 2000 ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

PMID 24090759 2013 Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

PMID 28956312 2017 Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017).

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 23360865 2013 Dermatologic manifestations of ataxia-telangiectasia syndrome.

PMID 20717907 2010 The feasibility and validity of forced spirometry in ataxia telangiectasia.

PMID 15196260 2004 The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 24422204 2014 Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 26439923 2015 Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

PMID 24405665 2014 Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

PMID 24935205 2015 Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation.

PMID 18431795 2008 A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 21164480 2010 TRIM24 links a non-canonical histone signature to breast cancer.

PMID 12072877 2002 Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 11756177 2002 ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 23264026 2013 Newborn screening for SCID identifies patients with ataxia telangiectasia.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 19705055 2009 Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 23561644 2013 Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 22763152 2013 Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

PMID 19022408 2009 Human MutL-complexes monitor homologous recombination independently of mismatch repair.

PMID 25374739 2013 A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.

PMID 20308662 2010 Child with ataxia telangiectasia developing acute myeloid leukemia.

PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 27528516 2016 Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 22927201 2012 A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

PMID 20678261 2010 Low levels of ATM in breast cancer patients with clinical radiosensitivity.

PMID 27989354 2017 Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

PMID 25625042 2015 ATM gene mutations in sporadic breast cancer patients from Brazil.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 17376192 2007 Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

PMID 20153123 2010 DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 17393301 2008 The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 15390180 2005 Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 25883141 2015 JPred4: a protein secondary structure prediction server.

PMID 12553904 2003 The ATRs, ATMs, and TORs are giant HEAT repeat proteins.

rs141379009 in ATM gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs1800057 in ATM gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs594153 in ATM gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1800057 in ATM gene and Renal Cell Carcinoma PMID 28598434 2017 Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

rs3218688 in ATM gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3218688 in ATM gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs141379009 in ATM gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs1801516 in ATM gene and melanoma PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.

PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

rs228591 in ATM gene and response to metformin PMID 21186350 2011 Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.