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
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay.
Hegazy S et al.
International Journal of Surgical Pathology, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.
Filetti M et al.
Cancers, 2024
Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer.
Shao YJ et al.
Bmc Cancer, 2024
Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.
Zhu F et al.
The Journal of International Medical Research, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Fountzilas E et al.
International Journal of Molecular Sciences, 2023
Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis.
Tan S et al.
Clinical Genetics, 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
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A et al.
Scientific Reports, 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 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
Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.
Akamatsu S et al.
Jnci Cancer Spectrum, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
Mamlouk S et al.
Bmc Biology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A et al.
Human Mutation, 2019
Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.
Yang Z et al.
Breast Cancer Research and Treatment, 2019
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines.
Ohmoto A et al.
Journal of Gastroenterology, 2018
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
Germline mutations in Japanese familial pancreatic cancer patients.
Takai E et al.
Oncotarget, 2016
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Genomic landscape of salivary gland tumors.
Kato S et al.
Oncotarget, 2015
Comprehensive scanning of the ATM gene with DOVAM-S.
Buzin CH et al.
Human Mutation, 2003