Associated Papers
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Severe Radiation-Induced Brachial Plexopathy: A Case Report on Radiation Toxicity in a Patient With Invasive Ductal Carcinoma.
Waeldner K et al.
Cureus, 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
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W et al.
Cancers, 2022
Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
Tatineni S et al.
Cancer Medicine, 2022
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 2015
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
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
Carney EF et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
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
Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.
Austen B et al.
Blood, 2005
Comprehensive scanning of the ATM gene with DOVAM-S.
Buzin CH et al.
Human Mutation, 2003
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellví-Bel S et al.
Human Mutation, 1999