ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Validation of a targeted next-generation sequencing approach to detect mismatch repair deficiency in colorectal adenocarcinoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Composite gangliocytoma/neuroma and neuroendocrine tumor: a clinicopathologic, immunohistochemical, and molecular genetic study of 11 cases.Virchows Archiv : an international journal of pathology · 2026Article
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- A paired sequencing study of goblet cell adenocarcinomas with coincident sessile serrated lesions and low-grade appendiceal mucinous neoplasms.Virchows Archiv : an international journal of pathology · 2025Article
- Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations.The Journal of molecular diagnostics : JMD · 2025Article
- Loss of Kmt2c or Kmt2d drives brain metastasis via KDM6A-dependent upregulation of MMP3.Nature cell biology · 2024Article
- Current and Future Biomarkers in Esophagogastric Adenocarcinoma.Journal of gastrointestinal cancer · 2024Review
- Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.Pediatric blood & cancer · 2023Article
- Development and evaluation of INTFrontiers in oncology · 2023Article
- Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Clinicopathologic and molecular spectrum of testicular sex cord-stromal tumors not amenable to specific histopathologic subclassification.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.Familial cancer · 2022Article
- Underutilization of Guideline-Recommended Mismatch Repair/Microsatellite Instability Biomarker Testing in Advanced Colorectal Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- "Pure" hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms.Virchows Archiv : an international journal of pathology · 2022Article
- Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.Virchows Archiv : an international journal of pathology · 2022Article
- Molecular assessment of testicular adult granulosa cell tumor demonstrates significant differences when compared to ovarian counterparts.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Article
- Comparative molecular analysis of testicular Leydig cell tumors demonstrates distinct subsets of neoplasms with aggressive histopathologic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Re-evaluating tumors of purported specialized prostatic stromal origin reveals molecular heterogeneity, including non-recurring gene fusions characteristic of uterine and soft tissue sarcoma subtypes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Article
- Molecular Characterization and Therapeutic Targeting of Colorectal Cancers Harboring Receptor Tyrosine Kinase Fusions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mismatch repair protein deficiency is a hallmark of cancers associated with Lynch syndrome and is a biomarker for response to immunotherapy. With the increasing adoption of cancer next-generation sequencing, there has been a movement to develop screening approaches that take advantage of the unique mutational signatures of mismatch repair-deficient tumors. Here, we develop a sequencing-based metric that distinguishes mismatch repair-deficient from mismatch repair-proficient colorectal adenocarcinomas with comparison to immunohistochemical staining. We find that a single criterion of three or more single base pair insertion or deletion mutations per megabase sequenced, occurring in mononucleotide repeat regions of four or more nucleotides, is sufficient to detect mismatch repair deficiency with 96% sensitivity and 100% specificity in a training set of 241 cancers and 96% sensitivity and 99% specificity in a validation set of 436 additional cancers. Using data from the same cohort, we also find that sequencing information from only three genes-ARID1A, KMT2D, and SOX9-is sufficient to detect mismatch repair-deficient colorectal adenocarcinomas with 76% sensitivity and 98% specificity in the validation set. These findings support the notion that targeted next-generation sequencing already being performed for clinical or research purposes can also be used to accurately detect mismatch repair deficiency in colorectal adenocarcinomas.
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