ArticleThe Journal of molecular diagnostics : JMD2020
Reliable Clinical MLH1 Promoter Hypermethylation Assessment Using a High-Throughput Genome-Wide Methylation Array Platform.
Article in The Journal of molecular diagnostics : JMD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed.
- SWI/SNF Complex-Deficient Undifferentiated Carcinoma of the Pancreas: Clinicopathologic and Genomic Analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Trial
- DNA methylation signatures of sporadic colorectal cancer with microsatellite instability.Epigenetics · 2026Article
- MLH1 promoter methylation in pancreatic ductal adenocarcinoma: frequent but not prognostic.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Genomic loss of MLH1/PMS2 loci defines a mismatch repair deficient subgroup in monomorphic epitheliotropic intestinal T-cell lymphoma.Blood cancer journal · 2026Article
- Low-Grade Fibro-Osseous Lesions With Isolated Chromosome 12 Chromothripsis: A Distinct Entity Or a Low-Grade Central Osteosarcoma With a Novel Driver?Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- Beyond Hybrid Morphology: A Large Series of Fusion-Driven Benign Peripheral Nerve Sheath Tumors Including 5 Tumors With Novel Fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- DNA Methylation Status of Regulatory Regions of Apoptosis-Associated Genes in Dystropy «Huntington's Disease-Non-Small Cell Lung Cancer».Epigenomes · 2025Article
- Soft tissue sarcoma with MN1 gene fusions: a report of three cases with aggressive clinical behavior.The Journal of pathology · 2025Article
- Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Unraveling epigenetic heterogeneity across gastrointestinal adenocarcinomas through a standardized analytical framework.Molecular oncology · 2025Article
- Alternative driver pathways in peripheral nerve sheath tumors - including DICER1 and/or KRAS alterations.The Journal of pathology · 2025Article
- A Rapid and Reliable Test forDiagnostics (Basel, Switzerland) · 2025Article
- Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.Genes, chromosomes & cancer · 2025Article
- Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.Genes, chromosomes & cancer · 2024Article
- Diffuse Pleural Mesotheliomas with Genomic Near-Haploidization: A Newly Recognized Subset with Distinct Clinical, Histologic, and Molecular Features.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing.The Journal of molecular diagnostics : JMD · 2024Article
- Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2024Article
- Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.Cancer · 2024Review
- The Significance of International Federation of Gynecology and Obstetrics Grading in Microsatellite Instability-High and POLE-Mutant Endometrioid Endometrial Carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas.Brain pathology (Zurich, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Clinical testing for MLH1 promoter hypermethylation status is important in the workup of patients with MLH1-deficient colorectal and uterine carcinomas when evaluating patients for Lynch syndrome. Current assays use single gene-based methods to assess promoter hypermethylation. Herein, we describe the development and report the performance of a clinical assay for MLH1 promoter hypermethylation using the Infinium methylationEPIC (850k) bead-array platform. Using four cytosine-guanine dinucleotide (CpG) sites within the MLH1 gene promoter, a qualitative MLH1 promoter hypermethylation assay was developed and validated using 63 gastrointestinal and uterine carcinoma samples of known hypermethylation status based on a pyrosequencing reference test. The array-based method achieves clinically robust and reproducible results at an analytical sensitivity level of 8%. Of importance, the 850k array contains probes targeting >850,000 additional CpG sites across the genome, covering sites in most known genes as well as important enhancer regions provided by the Encyclopedia of DNA Elements and Functional Annotation of The Mammalian Genome projects. Thus, the testing modality presented may also be applied to determine the methylation status of other clinically relevant genes or regulatory regions, potentially providing a single laboratory testing workflow for all clinical methylation assays. Furthermore, the concomitant acquisition of genome-wide methylation information provides a workflow that seamlessly enables wider translational epigenetic research.
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