Associated Papers
Predisposition to prostate cancer and clinical implications in a real-life cohort.
Chartier J et al.
European Journal of Human Genetics : Ejhg, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.
Khorrami M et al.
Iranian Journal of Child Neurology, 2019
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
Tabatabaiefar MA et al.
Journal of the Neurological Sciences, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.
Cavaciuti E et al.
Genes, Chromosomes & Cancer, 2005
ATM polymorphisms as risk factors for prostate cancer development.
Angèle S et al.
British Journal of Cancer, 2004
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
Gutiérrez-Enríquez S et al.
Genes, Chromosomes & Cancer, 2004
Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.
Fernet M et al.
British Journal of Cancer, 2004
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
Hacia JG et al.
Genome Research, 1998
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
Concannon P et al.
Human Mutation, 1997
Predominance of null mutations in ataxia-telangiectasia.
Gilad S et al.
Human Molecular Genetics, 1996