Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 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
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene.
Sharma R et al.
Frontiers in Oncology, 2023
Molecular characterization of adenocarcinomas arising in the urinary bladder following augmentation cystoplasty: a multi-institutional study.
Stohr BA et al.
Human Pathology, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
Yu Y et al.
Hgg Advances, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Magraner-Pardo L et al.
Scientific Reports, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020
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
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
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
Na R et al.
European Urology, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
Carney EF et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.
Rübe CE et al.
International Journal of Radiation Oncology, Biology, Physics, 2010
HSV-1 amplicon vector-mediated expression of ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype.
Cortés ML et al.
Gene Therapy, 2003
Predominance of null mutations in ataxia-telangiectasia.
Gilad S et al.
Human Molecular Genetics, 1996