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

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

rs1018140779 in C11orf65;ATM gene and Ataxia Telangiectasia PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

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

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

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

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

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

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

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

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with 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 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

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

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

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

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family with 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 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

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

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

PMID 14586414 2003 DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells.

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

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

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

PMID 27159176 2016 Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.

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

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

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

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

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

PMID 12810666 2003 Contributions of ATM mutations to familial breast and ovarian cancer.

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

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

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

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

PMID 23671275 2013 NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK).

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

PMID 26246601 2015 Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition.

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

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

PMID 26635394 2016 RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.

PMID 25122203 2014 The pleiotropic movement disorders phenotype of adult 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 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

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

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

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

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

PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

PMID 9463314 1998 We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.

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

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

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

PMID 18575927 2008 Attenuated presentation of ataxia-telangiectasia with familial cancer history.

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

PMID 17001622 2006 Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.

PMID 11382771 2001 The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.

PMID 11830610 2002 Dominant negative ATM mutations in breast cancer families.

PMID 16958054 2006 Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.

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

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

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

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

PMID 25077176 2014 We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described.

PMID 25914063 2015 Ataxia-telangiectasia with female fertility.

PMID 22345219 2012 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

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

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

PMID 11505391 2001 Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

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

PMID 16380133 2006 Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

PMID 18504682 2008 Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

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

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

PMID 23640770 2013 Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

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

PMID 8797579 1996 ATM mutations in cancer families.

PMID 12195425 2002 Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

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

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

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

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

PMID 18807267 2009 We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations.

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

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

PMID 24451234 2014 MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

PMID 16266405 2005 The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia.

PMID 26677768 2015 Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.

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

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

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

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

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

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

PMID 12552566 2003 The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.

PMID 9488043 1998 ATM is usually rearranged in T-cell prolymphocytic leukaemia.

PMID 10706620 2000 Mantle cell lymphoma is characterized by inactivation of the ATM gene.

PMID 9334731 1997 Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.

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

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

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

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

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

PMID 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

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 10534763 1999 Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.

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

PMID 12969974 2004 Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

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

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

PMID 23142947 2013 Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

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

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

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.

rs73008229 in C11orf65;ATM gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs73008229 in C11orf65;ATM gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs73008229 in C11orf65;ATM gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs1131691254 in C11orf65;ATM gene and Neoplastic Syndromes, Hereditary PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

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

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

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

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

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

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

PMID 10416970 1999 Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.

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

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

PMID 27159176 2016 Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.

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

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

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

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

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

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family 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 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

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

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

PMID 11830610 2002 Dominant negative ATM mutations in breast cancer families.

PMID 12205473 2002 ATM heterozygosity and cancer risk.

PMID 10607471 1999 Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.

PMID 16958054 2006 Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.

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

PMID 10534763 1999 Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.

PMID 12810666 2003 Contributions of ATM mutations to familial breast and ovarian cancer.

PMID 15880680 2005 Two ATM variants and breast cancer risk.

PMID 18575927 2008 Attenuated presentation of ataxia-telangiectasia with familial cancer history.

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

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

PMID 17001622 2006 Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.

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

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

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

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

PMID 19348699 2009 Variants in the ATM gene and breast cancer susceptibility.

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

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

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

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

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

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

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

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

PMID 22345219 2012 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

PMID 25914063 2015 Ataxia-telangiectasia with female fertility.

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 11505391 2001 Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

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

PMID 14695186 2003 ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.

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

PMID 16380133 2006 Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

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

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

PMID 23640770 2013 Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

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 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 8797579 1996 ATM mutations in cancer families.

PMID 8923007 1996 A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies.

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

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

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

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

PMID 29625052 2018 Pathogenic Germline Variants in 10,389 Adult Cancers.

PMID 29678143 2018 Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.

PMID 29368341 2018 Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

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

PMID 27449771 2016 Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

PMID 18807267 2009 A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.

PMID 26380989 2015 Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.

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

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

PMID 26677768 2015 Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.

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

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 25793145 2015 Myoclonus in ataxia-telangiectasia.

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

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

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 23211698 2013 Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

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

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

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

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

PMID 20081827 2010 The p110 delta structure: mechanisms for selectivity and potency of new PI(3)K inhibitors.

PMID 24663073 2015 T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.

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

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

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

PMID 11897822 2002 ATM mutations in Finnish breast cancer patients.

PMID 28767289 2017 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

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

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 28495237 2017 Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

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

PMID 17726045 2007 In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

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

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

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.