Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 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
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
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR et al.
Human Genetics, 2016
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV et al.
American Journal of Human Genetics, 2009
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Austen B et al.
British Journal of Haematology, 2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Broeks A et al.
Breast Cancer Research and Treatment, 2008
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.
Stredrick DL et al.
Human Mutation, 2006
Contributions of ATM mutations to familial breast and ovarian cancer.
Thorstenson YR et al.
Cancer Research, 2003
Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.
Dörk T et al.
Cancer Research, 2001
Functional consequences of sequence alterations in the ATM gene.
Lavin MF et al.
Dna Repair, 0