Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Guan Y et al.
Scientific Reports, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Complete response to pembrolizumab in mismatch repair-deficient urothelial carcinoma with local recurrence and recurrent upper tract urothelial carcinoma: a case report.
Shiraishi K et al.
International Cancer Conference Journal, 2025
Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.
Perletti G et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Horti-Oravecz K et al.
Npj Genomic Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.
Sheth H et al.
Familial Cancer, 2024
Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.
Laitman Y et al.
Breast Cancer Research and Treatment, 2024
DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma.
Denu RA et al.
Surgical Oncology Insight, 2024
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.
O'Connor CA et al.
Jama Oncology, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
A novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.
Ahuja K et al.
Cancer Genetics, 2024
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.
Matis T et al.
Bjc Reports, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 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
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023