Associated Papers
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.
Park JE et al.
Breast Cancer (tokyo, Japan), 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Calcifying nested stromal-epithelial tumor of the liver: Report of two cases revealing novel WT1 mutation and distinct epigenetic features.
Strakova-Peterikova A et al.
Virchows Archiv : an International Journal of Pathology, 2025
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 2024
Genetic Testing and Analysis in Breast Cancer Patients in Greece.
Rellias I et al.
Cureus, 2024
Integrative genomic analyses of European intrahepatic cholangiocarcinoma: Novel ROS1 fusion gene and PBX1 as prognostic marker.
Plum PS et al.
Clinical and Translational Medicine, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Hematopoietic-specific heterozygous loss of Dnmt3a exacerbates colitis-associated colon cancer.
Feng Y et al.
The Journal of Experimental Medicine, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities.
Matsubara J et al.
Jama Network Open, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.
Alonso N et al.
Frontiers in Genetics, 2023
Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
Zografos E et al.
Genes, 2022
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM et al.
Cancer Research, 2022
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
Zografos E et al.
Bmc Cancer, 2021
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2021
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T et al.
Genes, 2020
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A et al.
Human Mutation, 2019
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
Badgujar NV et al.
Plos One, 2019
Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.
Riaz N et al.
Nature Communications, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types.
Kumar RD et al.
Scientific Reports, 2017
Mutations driving CLL and their evolution in progression and relapse.
Landau DA et al.
Nature, 2015
Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.
Soumittra N et al.
Hereditary Cancer in Clinical Practice, 2009