Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.
Orsmond A et al.
Journal of Neuro-oncology, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.
Magnarelli A et al.
The Journal of Allergy and Clinical Immunology, 2025
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
Hansen EB et al.
Scientific Reports, 2023
Somatic loss of ATM is a late event in pancreatic tumorigenesis.
Paranal RM et al.
The Journal of Pathology, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
Astiazaran-Symonds E et al.
Cancers, 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
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S et al.
Cancers, 2021
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
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
Lotan TL et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
Rare germline genetic variants and risk of aggressive prostate cancer.
Nguyen-Dumont T et al.
International Journal of Cancer, 2020
Genomic and Clinicopathologic Characterization of ATM-deficient Prostate Cancer.
Kaur H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.
Georgescu MM et al.
Acta Neuropathologica Communications, 2020
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation.
Chan KH et al.
Journal of Investigative Medicine High Impact Case Reports, 0