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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 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
Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India.
Batra A et al.
Jco Precision Oncology, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 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
Atypical Fibroxanthoma-Like Melanoma: A Rare Subtype of High-Cumulative Sun Damage Melanoma With Partial Dedifferentiation and an Aggressive Molecular Profile.
Shendrik I et al.
Cureus, 2025
Similar genetic profile in early and late stage urothelial tract cancer.
Stormoen DR et al.
Journal of Cancer Research and Clinical Oncology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
Xia Y et al.
F&s Reports, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 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
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
Concordance and Clinical Significance of Genomic Alterations in Progressive Tumor Tissue and Matched Circulating Tumor DNA in Aggressive-variant Prostate Cancer.
Wang R et al.
Cancer Research Communications, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.
Kim R et al.
Blood Cancer Discovery, 2023
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 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
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
Muthusamy K et al.
American Journal of Medical Genetics. Part A, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.
Sun D et al.
Frontiers in Oncology, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 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
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
Bertucci F et al.
Genome Medicine, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.
Fan Y et al.
Cancer Biology & Medicine, 2020
Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
Inagaki-Kawata Y et al.
Communications Biology, 2020
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
van Os NJH et al.
Journal of Neurology, 2020
Genomic profiling of multiple breast cancer reveals inter-lesional heterogeneity.
Ahn S et al.
British Journal of Cancer, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.
Cho SY et al.
Gastroenterology, 2017
The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
Eliade M et al.
Oncotarget, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Monoallelic germline ATM mutation and organising pneumonia induced by radiation therapy to the breast.
Cordier JF et al.
The European Respiratory Journal, 2016
Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation.
Ostendorf BN et al.
European Journal of Haematology, 2015