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

Gene: C11orf65

Alternate names for this Gene: MFI

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.3

Description of this Gene: chromosome 11 open reading frame 65

Type of Gene: protein-coding

rs1057516282 in ATM;C11orf65 gene and Ataxia Telangiectasia PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 23632773 2013 Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for 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 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

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

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

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

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

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

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

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

PMID 18560558 2008 Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

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

PMID 20966255 2010 ATM activation by oxidative stress.

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

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

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

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

PMID 23946315 2013 Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

PMID 26436112 2015 Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.

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

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

PMID 8698354 1996 New mutations in the ataxia telangiectasia gene.

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

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

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

PMID 8659541 1996 Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

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

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

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 28007021 2016 Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

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

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

PMID 25032865 2014 Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.

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

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 11756185 2002 Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage.

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

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

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

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

PMID 12646636 2003 ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region.

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

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

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

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

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

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

PMID 22017321 2012 Neuropathology in classical and variant ataxia-telangiectasia.

PMID 23532176 2013 The ATM signaling network in development and disease.

PMID 25460276 2014 PIKKs--the solenoid nest where partners and kinases meet.

PMID 26693373 2015 Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

PMID 23585368 2013 Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

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

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

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

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

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

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

PMID 18573109 2008 Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

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 12697903 2003 Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

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 12552566 2003 Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.

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

PMID 10397742 1999 Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

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

PMID 11805335 2002 Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

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

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

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

PMID 25957637 2015 Clinical variability in ataxia-telangiectasia.

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

PMID 2557216 1989 "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""."

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

PMID 21354641 2011 Ataxia telangiectasia: the consequences of a delayed diagnosis.

PMID 15279808 2005 Functional consequences of sequence alterations in the ATM gene.

PMID 19605768 2009 Ataxia-telangiectasia: without ataxia or telangiectasia?

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

PMID 25793145 2015 Myoclonus in ataxia-telangiectasia.

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

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

PMID 29015585 1953 Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide.

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

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

PMID 16238588 2005 Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

PMID 11382771 2001 Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

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

PMID 15174027 2004 Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

PMID 26915675 2016 Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

PMID 12883528 2003 HSV-1 amplicon vector-mediated expression of ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype.

PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

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

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

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

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

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

PMID 22895193 2012 Recurrent R-spondin fusions in colon cancer.

PMID 18813293 2008 Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.

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

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.

rs770641163 in ATM;C11orf65 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.

rs1057516282 in ATM;C11orf65 gene and Neoplastic Syndromes, Hereditary PMID 25480502 2015 Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.

PMID 16603769 2006 The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.

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

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

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

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

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

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

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

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

PMID 23946315 2013 Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

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

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

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

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

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

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

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

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

PMID 8659541 1996 Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

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

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

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

PMID 29101607 2018 Development of a high risk pancreatic screening clinic using 3.0 T MRI.

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

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

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

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

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

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

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

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

PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

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

PMID 26693373 2015 Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

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

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

PMID 23585368 2013 Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

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

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

PMID 9054948 1997 Heterozygous ATM mutations do not contribute to early onset of breast cancer.

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

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

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

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 10397742 1999 Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

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

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 12149228 2002 ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.

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

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

PMID 12697903 2003 Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

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

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

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

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

PMID 25957637 2015 Clinical variability in ataxia-telangiectasia.

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

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

PMID 11805335 2002 Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

PMID 25572163 2015 Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

PMID 21354641 2011 Ataxia telangiectasia: the consequences of a delayed diagnosis.

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

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

PMID 17923702 2007 DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity.

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

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

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

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

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

PMID 11897822 2002 ATM mutations in Finnish breast cancer patients.

PMID 16622469 2006 ATM haplotypes and breast cancer risk in Jewish high-risk women.

PMID 16914028 2006 ATM variants and cancer risk in breast cancer patients from Southern Finland.

PMID 17166884 2007 Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.

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

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

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

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 11382771 2001 Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

PMID 15174027 2004 Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 18560558 2008 Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

PMID 26220245 2016 Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.

PMID 9244351 1997 Recombinant ATM protein complements the cellular A-T phenotype.

PMID 18066086 2007 Activation and regulation of ATM kinase activity in response to DNA double-strand breaks.

PMID 26491069 2015 Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.

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

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

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

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

rs227041 in ATM;C11orf65 gene and response to metformin PMID 21186350 2011 Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.