ArticleGynecologic oncology2021
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.
Article in Gynecologic oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.European journal of human genetics : EJHG · 2026Guideline
- Comparison of immunohistochemistry, PCR, and NGS for the evaluation of mismatch repair deficiency and microsatellite instability in colorectal cancer: a retrospective study.Diagnostic pathology · 2026Article
- Instability in the Penta-C and Penta-D Loci in Microsatellite-Unstable Endometrial Cancer.International journal of environmental research and public health · 2025Article
- EPM2 AIP1 immunohistochemistry as a surrogate of promoter methylation analysis in endometrial carcinoma.Virchows Archiv : an international journal of pathology · 2025Article
- A working group report from the 2024 National Cancer Institute / Gynecologic Cancer Steering Committee endometrial cancer clinical trials planning meeting: refining the approach to endometrial cancer in the immunotherapy era.Journal of the National Cancer Institute · 2025Article
- Review
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
- Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?JCO precision oncology · 2024Article
- Unveiling pembrolizumab effectiveness in diverse subtypes of MSI-high endometrial cancers.Journal of gynecologic oncology · 2024Article
- Landscape of Endometrial Cancer: Molecular Mechanisms, Biomarkers, and Target Therapy.Cancers · 2024Review
- Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns.Diagnostics (Basel, Switzerland) · 2024Article
- Precision Medicine in the Era of Genetic Testing: Microsatellite Instability Evolved.Clinics in colon and rectal surgery · 2024Review
- Assessment of Immune Status in Patients with Mismatch Repair Deficiency Endometrial Cancer.Journal of inflammation research · 2024Article
- A novel colorectal cancer test combining microsatellite instability andBJC reports · 2024Article
- Mismatch repair geneFrontiers in immunology · 2024Article
- Mismatch Repair Protein Expression in Endometrial Cancer: Assessing Concordance and Unveiling Pitfalls in Two Different Immunohistochemistry Assays.Journal of personalized medicine · 2023Article
- A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.Journal of translational medicine · 2023Article
- A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.Cancer research communications · 2023Article
- Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.Frontiers in oncology · 2023Article
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Authors and funding
20 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveLynch syndrome is the most common cause of inherited endometrial cancer, attributable to germline pathogenic variants (PV) in mismatch repair (MMR) genes. Tumor microsatellite instability (MSI-high) and MMR IHC abnormalities are characteristics of Lynch syndrome. Double somatic MMR gene PV also cause MSI-high endometrial cancers. The aim of this study was to determine the relative frequency of Lynch syndrome and double somatic MMR PV.
methods341 endometrial cancer patients enrolled in the Ohio Colorectal Cancer Prevention Initiative at The Ohio State University Comprehensive Cancer Center from 1/1/13-12/31/16. All tumors underwent immunohistochemical (IHC) staining for the four MMR proteins, MSI testing, and MLH1 methylation testing if the tumor was MMR-deficient (dMMR). Germline genetic testing for Lynch syndrome was undertaken for all cases with dMMR tumors lacking MLH1 methylation. Tumor sequencing followed if a germline MMR gene PV was not identified.
resultsTwenty-seven percent (91/341) of tumors were either MSI-high or had abnormal IHC indicating dMMR. As expected, most dMMR tumors had MLH1 methylation; (69, 75.8% of the dMMR cases; 20.2% of total). Among the 22 (6.5%) cases with dMMR not explained by methylation, 10 (2.9% of total) were found to have Lynch syndrome (6 MSH6, 3 MSH2, 1 PMS2). Double somatic MMR PV accounted for the remaining 12 dMMR cases (3.5% of total).
conclusionsSince double somatic MMR gene PV are as common as Lynch syndrome among endometrial cancer patients, paired tumor and germline testing for patients with non-methylated dMMR tumor may be the most efficient approach for LS screening.
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