Associated Papers
PMS2-related constitutional mismatch repair deficiency in a patient with unilateral retinoblastoma and negative germline RB1.
Chattannavar G et al.
Ophthalmic Genetics, 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
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 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
Osteosarcoma and Langerhans Cell Histiocytosis in a Pediatric Patient with Lynch Syndrome: A Case Report.
Sabzevari S et al.
Jbjs Case Connector, 2024
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Bouras A et al.
Genes, Chromosomes & Cancer, 2024
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
PMS2 variant results in loss of ATPase activity without compromising mismatch repair.
D'Arcy BM et al.
Molecular Genetics & Genomic Medicine, 2022
Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas.
Huelsman KM et al.
Journal of Personalized Medicine, 2021
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Arora S et al.
Cancer Biology & Therapy, 2017
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.
Mauer CB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
Walter AW et al.
Pediatric Blood & Cancer, 2013
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010