Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 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
The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.
Erices JI et al.
Frontiers in Oncology, 2025
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.
Lai J et al.
Cell Reports, 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
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
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
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
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Dragoš VŠ et al.
International Journal of Molecular Sciences, 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
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Rotunno M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms.
Skaro M et al.
Gastroenterology, 2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
Ohmoto A et al.
International Journal of Molecular Sciences, 2019
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB et al.
Frontiers in Immunology, 2019
Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
Hu C et al.
Jco Precision Oncology, 2018
Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options.
Gay LM et al.
The Oncologist, 2017
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
Bunnell AE et al.
Journal of Genetic Counseling, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
Seifert BA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.
Burger JA et al.
Nature Communications, 2016
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Deoxycytidine kinase augments ATM-Mediated DNA repair and contributes to radiation resistance.
Bunimovich YL et al.
Plos One, 2014
ATM mutations in patients with hereditary pancreatic cancer.
Roberts NJ et al.
Cancer Discovery, 2012
Rare variants in the ATM gene and risk of breast cancer.
Goldgar DE et al.
Breast Cancer Research : Bcr, 2011
Discovering moderate-risk breast cancer susceptibility genes.
Hollestelle A et al.
Current Opinion in Genetics & Development, 2010
Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.
Fang NY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2003