Associated Papers
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 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
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
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Decker B et al.
Journal of Medical Genetics, 2017
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
George Priya Doss C et al.
Plos One, 2012
ATM gene variants in patients with idiopathic perifoveal telangiectasia.
Barbazetto IA et al.
Investigative Ophthalmology & Visual Science, 2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Broeks A et al.
Breast Cancer Research and Treatment, 2008
Constitutional alterations of the ATM gene in early onset sporadic breast cancer.
Maillet P et al.
Journal of Medical Genetics, 2002
Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.
Teraoka SN et al.
Cancer, 2001