ATM
HGNC:795 · 48 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATM | “Pairwise analysis of senescence-related gene expression (LMNB1, MKI67, CDKN1A, ATM, IGFBP7, MMP2, CXCL14, and CCL5) was performed in an independent geneset of 68 paired pre- and post-NAC BC patient samples.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Single mutations were observed in BRCA1, LATS2, ATM, USP35, and CIC, associated with DNA repair, the ubiquitin proteasome pathway, and transcriptional regulation respectively.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “In contrast, downregulation was discovered for 39 genes associated with immunity, regulation of cell cycle, and DNA damage response (HRAS, CCND1, ATM, CXCR1, and MIF).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Ten hub genes were obtained based on maximum clique centrality (MCC), maximum neighborhood component (MNC), degree, closeness and betweenness using cytoHubba which included ACTB, ATM, ESR1, GAPDH, HNRNPK, KRAS, MDM2, SIRT1, TP53, and H3F3C (H3-5).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “ATM and p53 in aging and cancer: a double-edged sword in genomic integrity.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Breast Cancer Risk Modification in Women with Pathogenic Variants in BRCA1, BRCA2, ATM, CHEK2, and PALB2.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Herein, we reported mutations in five DNA Damage Repair (DDR) i.e., TP53, ATR, ATM, CHEK1 and CHEK2 involved in OSCC using NG-WES and their analysis using bioinformatics tools.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “To determine the effects of genetic variants of multidrug and toxin extrusion protein 2 (MATE2), ataxia telangiectasia mutated (ATM), and serine/threonine kinase 11 (STK11) genes on metformin response in a cohort of Saudi patients.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Eight hub genes (EGFR, HSPA90AA1, MAPK1, HSPA4, PPP2CA, CDKN2A, CDC20, and ATM) were selected for further analysis.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Various somatic and germline mutations were identified in cancer-related genes, i.e., ATM, CHEK2, PALB2, and XRCC2.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Among our findings, we have identified that ALK, VHL, CTNNB1, EGFR, ERBB4, PDGFRA, KDR, SMO, ABL1, HRAS, ATM, HNF1A, FLT3, and RB1 mutations are common for psammomatous meningioma and angiomatous tumours.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “We observed significant downregulation in flavin-containing monooxygenase (FMO), Ataxia Telangiectasia Mutated (ATM), and uridine diphosphate glucuronosyltransferases (UGT) gene expression levels in the exposed cells of CMPS-NMs and HMPS- NMs.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Frequent mutations were observed in BRCA2 (79%), CHEK1 (78%), ATM (76%), PMS2 (76%), ATR (74%), and MYCL (73%).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Of the 310 subjects, 119 (38.4%) were carriers of pathogenic or likely pathogenic variants (PVs) affecting one or more of the following genes: TP53, ATM, CHEK2, CDH1, CDKN2A, BRCA1, BRCA2, PALB2, BRIP1, RAD51D, APC, MLH1, MSH2, MSH6, PMS2, PTEN, NBN/NBS1 and MUTYH.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Probably pathogenic alterations occurred in 13/19 tumors (68.4%) and included variants in POLE (31.6%), CDKN2A (26%), NF1 (21%), BRCA2 (15.8%), SETD2 (5.3%), ATM (5.3%), FLT3 (5.3%), and ROS1 (5.3%).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “The present review discusses candidate genes such as HOXB13, BRCA1, BRCA2, ATM, MMR gene, RAD51C, CHECK2, etc., and family-based linkage studies which defined the location of loci on chromosomal regions like 1q24-25, 1q42-43, Xq27-28, 1p36, 20q13, 17q21.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly consanguineous society.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Other non-BRCA mutations (ATM, RAD51C, RAD51D, BRIP1, CDH1, MRE11, MSH6, MUTYH, PALB2, and PMS2) were observed in an additional 20 patients (9.0%), of whom 18 had HGSC.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Furthermore, ATR, ATM, BMI1, CCAT1, Chk1, Chk2, COX-2, FoxM1, FSCN1, Ki67, MALAT1, miR-29, miR-34a, miR-92, miR-182-5, PANDAR, PIK3CA, TIGAR over-expression revealed a robust association with CRC in Saudi Arabia (KSA).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “RESULTS: Of 132 women with breast cancer, 40 women were found to be genetically positive (31.4%), 31 women of 40 (77.5%) had a BRCA mutation, 3 (7.5%) had ATM, 2 (5%) had CHK2, and one (2.5%) for each of the following genes: PALP2, NF, MUTYH.c.536A, and TP53.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “We have protein expression profiled for MRN and a panel of DNA repair factors involved in double-strand break repair (BRCA1, BRCA2, ATM, CHK2, ATR, Chk1, pChk1, RAD51, γH2AX, RPA1, RPA2, DNA-PKcs), RECQ DNA helicases (BLM, WRN, RECQ1, RECQL4, RECQ5), nucleotide excision repair (ERCC1) and base excision repair (SMUG1, APE1, FEN1, PARP1, XRCC1, Pol β) in 1650 clinical breast cancers.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “We identified several frequently mutated genes, including TP53, NOTCH1, CASP8, RYR2, LRP2, CDKN2A, and ATM.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “The most frequently mutated) genes were NOTCH1-3 (7/37), ATM (4/37), RAD51C (3/37), RNF43 (3/37), SLX4 (3/37) and NF1 (3/37).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “The results from NGS identified 12 novel missense mutations in the following genes: NOTCH1, ATM, STK36, MAGI1, DST, RECQL4, NUMA1, THBS1, MYH11, MALT1, SMARCA4 and CDH20.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “We show that non-coding mutations in ATM may negatively impact on ATM expression and find non-coding and regulatory region mutations in TCL1A, and in IgHVunmut CLL in IKZF3, SAMHD1,PAX5 and BIRC3.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “METHODS: The expression of hTERT, TRF1, TRF2, POT1, ATR, ATM, Chk1 and Chk2 were measured via real-time PCR in matched cancerous and adjacent tissues of CRC patients.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Germline pathogenic mutations in ATM and PALB2 were enriched in both the discovery (OR = 2.81 and p = 0.035 for ATM and OR = 4.91 and p = 0.024 for PALB2) and validation (OR = 2.97 and adjusted p = 0.0013 for ATM and OR = 3.42 and adjusted p = 0.034 for PALB2) sets.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Remarkably, pathogenic or likely pathogenic alleles in DNA repair/genomic instability genes (other than BRCA2, ATM and PALB2) accounted for at least 16.8, 11.1, 50 and 45.5% of mutation-positive breast, ovarian, thyroid and colorectal cancer patients, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Six SNPs (CDKN1A C31A, ATM G1853A, HDM2 T309G, TGFB1 T10C, XRCC1 G399A, and XRCC3 C241T) were genotyped by direct sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Identified pathogenic variants included both single nucleotide variants and exonic copy number variants, such as hemizygous nonsense, frameshift, and missense changes in IL2RG; compound heterozygous changes in ATM, RAG1, and CIITA; homozygous changes in DCLRE1C and IL7R; and a heterozygous nonsense mutation in CHD7.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Other mutations frequently seen in lower grade gliomas (BCOR, BCORL1, ERBB3, MYB, ATM) were also present in several tumors.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “RESULTS: The wide variation in SF2 (0.12-0.50; mean=0.33) was significantly associated with 3 SNPs: TP53 G72C (P=0.007), XRCC1 G399A (P=0.002) and ATM G1853A (P=0.01).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Eleven candidate genes (ATM, XRCC1, XRCC3, XRCC4, XRCC5, PRKDC, LIG4, TP53, HDM2, CDKN1A, TGFB1) were selected for their presumed influence on radiosensitivity.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “A total of 45 SNPs in 11 candidate genes (ATM, XRCC1, XRCC3, XRCC4, XRCC5, PRKDC, LIG4, TP53, HDM2, CDKN1A, TGFB1) were genotyped by direct genomic DNA sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Therefore, we investigated HPV prevalence and genotype distribution in cervical cancer as well as the association with 9 genetic single nucleotide polymorphisms (SNPs): CDKN1A (p21) C31A, TP53 C72G, ATM G1853A, HDM2 promoter T309G, HDM2 A110G, LIG4 A591G, XRCC1 G399A, XRCC3 C241T and TGFβ1 T10C, presumed to predispose to cancer.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “The aim of this study was to investigate the association between 10 SNPs in genes involved in cell cycle control and DNA repair (p21 C31A, p53 G72C, ATM G1853A, XRCC1 G399A, XRCC3 C241T, Ku80 A2790G, DNA Ligase IV C9T, DNA-PKcs A3434G, TGF-beta T10C, MDM2 promoter T309G) and the risk to develop head and neck cancer.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “INTRODUCTION: Ataxia telangiectasia (AT) is a recessive neurodegenerative disease due to a faulty repair mechanism for breaks in double-stranded DNA (ATM mutation).” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “METHODS AND MATERIALS: Six amino acid substitution variants (ATM 1853 Asp/Asn G>A, p53 72 Arg/Pro G>C, p21 31 Ser/Arg C>A, XRCC1 399 Arg/Gln G>A, XRCC3 241 Thr/Met C>T, and TGFbeta1 10 Leu/Pro T>C) were genotyped by direct sequencing in 54 fibroblast strains of different radiosensitivity.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Ataxia telangiectasia (AT) is a human hereditary syndrome whose underlying gene product, ataxia telangiectasia mutated (ATM) protein kinase, is involved in multiple intracellular signaling pathways.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “Deficiency in the repair of UV-induced DNA damage in human skin fibroblasts compromised for the ATM gene.” | 0.98 | hgnc_dict_v1 |
| gene | ATM | “The data also implicate ATM, the product of the gene responsible for A-T, as a key mediator of both intracellular Ca2+ mobilization and CaMKII activation in response not only to genotoxic stress but also to physiological stimuli.” | 0.98 | hgnc_dict_v1 |