Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
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
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
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S 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
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Wappenschmidt B et al.
Geburtshilfe Und Frauenheilkunde, 2020
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.
Keimling M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Detection of ATM gene mutations in young lung cancer patients: a population-based control study.
Schneider J et al.
Archives of Medical Research, 2008
A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
Howe JR et al.
Cancer Genetics and Cytogenetics, 2008
ATM gene mutations in former uranium miners of SDAG Wismut: a pilot study.
Schneider J et al.
Oncology Reports, 2007
Molecular pathology of ataxia telangiectasia.
Taylor AM et al.
Journal of Clinical Pathology, 2005
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Bionda C et al.
Human Genetics, 2004
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.
Dörk T et al.
American Journal of Medical Genetics. Part A, 2004
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.
Angèle S et al.
Human Mutation, 2003
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
van Belzen MJ et al.
Human Genetics, 1998