Associated Papers
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Predicting pathogenic DNA damage repair gene mutations in prostate cancer patients: a multi-center magnetic resonance imaging radiomics study.
Chen Y et al.
Quantitative Imaging in Medicine and Surgery, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Genetic Testing Uptake among Ovarian Cancer Survivors in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study.
White LL et al.
Cancers, 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
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
O'Brien TD et al.
American Journal of Human Genetics, 2023
Somatic loss of ATM is a late event in pancreatic tumorigenesis.
Paranal RM et al.
The Journal of Pathology, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.
Borja NA et al.
Frontiers in Oncology, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
PALB2 Variants: Protein Domains and Cancer Susceptibility.
Nepomuceno TC et al.
Trends in Cancer, 2021
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Ancestry-specific predisposing germline variants in cancer.
Oak N et al.
Genome Medicine, 2020
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.
Hutchings D et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M et al.
Bmc Medical Genetics, 2018
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2018
The vaccinia virus E8R gene product is required for formation of transcriptionally active virions.
Kato SE et al.
Virology, 2007
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Lyly A et al.
Bmc Cell Biology, 2007
Nucleophosmin suppresses oncogene-induced apoptosis and senescence and enhances oncogenic cooperation in cells with genomic instability.
Li J et al.
Carcinogenesis, 2007
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Usui T et al.
Hormone Research, 2004
Comprehensive scanning of the ATM gene with DOVAM-S.
Buzin CH et al.
Human Mutation, 2003
Defects in pre-mRNA processing as causes of and predisposition to diseases.
Stoilov P et al.
Dna and Cell Biology, 2002
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.
Camacho E et al.
Blood, 2002