Associated Papers
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
Renault AL et al.
Breast Cancer Research : Bcr, 2022
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Blanchard-Rohner G et al.
Frontiers in Immunology, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif.
Bradshaw PS et al.
Oncogene, 2002
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
Izatt L et al.
European Journal of Human Genetics : Ejhg, 1999
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