Associated Papers
Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.
Schmalz D et al.
International Journal of Molecular Sciences, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 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
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.
Chen X et al.
Jama Oncology, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.
Grochot R et al.
European Urology Open Science, 2023
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.
Nacer DF et al.
Genome Medicine, 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
Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
Pourahmadiyan A et al.
The International Journal of Neuroscience, 2022
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M et al.
Molecular Genetics and Genomics : Mgg, 2022
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
Yu Y et al.
Hgg Advances, 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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kumar KR et al.
Parkinsonism & Related Disorders, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH et al.
Clinical Immunology (orlando, Fla.), 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ et al.
The Journal of Allergy and Clinical Immunology, 2013
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM et al.
Human Mutation, 2012
Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.
Kieslich M et al.
Cerebellum (london, England), 2010
Discovering moderate-risk breast cancer susceptibility genes.
Hollestelle A et al.
Current Opinion in Genetics & Development, 2010
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
Renwick A et al.
Nature Genetics, 2006
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
Heinrich T et al.
European Journal of Pediatrics, 2006
Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study.
Berstein JL et al.
Radiation Research, 2005
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Mitui M et al.
Human Mutation, 2003
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.
Bernstein JL et al.
Human Mutation, 2003
Comprehensive scanning of the ATM gene with DOVAM-S.
Buzin CH et al.
Human Mutation, 2003
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999