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
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.
Akay S et al.
Genes, 2025
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.
Siu LL et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.
Chamova T et al.
Genes, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.
Llach J et al.
Cancers, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden.
Lindahl H et al.
Heliyon, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
MicroRNA dysregulation in ataxia telangiectasia.
Cirillo E et al.
Frontiers in Immunology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.
Balinisteanu I et al.
Biomedicines, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Monocyte depletion enhances neutrophil influx and proneural to mesenchymal transition in glioblastoma.
Chen Z et al.
Nature Communications, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
Cirillo E et al.
Journal of Clinical Immunology, 2022
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen V et al.
Oncology Letters, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.
Rawat A et al.
Scientific Reports, 2022
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
Sahin I et al.
Genetic Testing and Molecular Biomarkers, 2022
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Maroilley T et al.
Frontiers in Genetics, 2022
The natural history of ataxia-telangiectasia (A-T): A systematic review.
Petley E et al.
Plos One, 2022