ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Testing strategies for Lynch syndrome in people with endometrial cancer: systematic reviews and economic evaluation.Health technology assessment (Winchester, England) · 2021Pooled it
- Real-World Molecular Testing in European Early-Onset Colorectal Cancer.United European gastroenterology journal · 2025Article
- Predictors of Genetic Testing for Hereditary Cancer in Qualified Individuals.Medical research archives · 2025Article
- Genomics and integrative clinical data machine learning scoring model to ascertain likely Lynch syndrome patients.BJC reports · 2025Article
- A validation of models for prediction of pathogenic variants in mismatch repair genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Economic Burden of Depression and Associated Resource Use in Manitoba, Canada.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Effective Identification of Lynch Syndrome in Gastroenterology Practice.Current treatment options in gastroenterology · 2019Review
- The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting.PloS one · 2019Article
- A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.Journal of community genetics · 2018Article
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- Development and Validation of the PREMMJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Article
- Advances in Hereditary Colorectal and Pancreatic Cancers.Clinical therapeutics · 2016Review
- Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.Surgical pathology clinics · 2016Review
- Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Article
- Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.Gynecologic oncology · 2015Article
- Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?BioMed research international · 2015Review
- Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancer.Cancer prevention research (Philadelphia, Pa.) · 2014Article
- Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome.Seminars in diagnostic pathology · 2014Review
- UK colorectal cancer patients are inadequately assessed for Lynch syndrome.Frontline gastroenterology · 2014Article
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Authors and funding
17 authors.
Funding
Abstract
purposeLynch syndrome accounts for 2-5% of endometrial cancer cases. Lynch syndrome prediction models have not been evaluated among endometrial cancer cases.
methodsArea under the receiver operating curve (AUC), sensitivity and specificity of PREMM(1,2,6), MMRpredict, and MMRpro scores were assessed among 563 population-based and 129 clinic-based endometrial cancer cases.
resultsA total of 14 (3%) population-based and 80 (62%) clinic-based subjects had pathogenic mutations. PREMM(1,2,6), MMRpredict, and MMRpro were able to distinguish mutation carriers from noncarriers (AUC of 0.77, 0.76, and 0.77, respectively), among population-based cases. All three models had lower discrimination for the clinic-based cohort, with AUCs of 0.67, 0.64, and 0.54, respectively. Using a 5% cutoff, sensitivity and specificity were as follows: PREMM(1,2,6), 93% and 5% among population-based cases and 99% and 2% among clinic-based cases; MMRpredict, 71% and 64% for the population-based cohort and 91% and 0% for the clinic-based cohort; and MMRpro, 57% and 85% among population-based cases and 95% and 10% among clinic-based cases.
conclusionCurrently available prediction models have limited clinical utility in determining which patients with endometrial cancer should undergo genetic testing for Lynch syndrome. Immunohistochemical analysis and microsatellite instability testing may be the best currently available tools to screen for Lynch syndrome in endometrial cancer patients.
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