ArticleCancer prevention research (Philadelphia, Pa.)2017
Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.
Article in Cancer prevention research (Philadelphia, Pa.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.Familial cancer · 2022Pooled it
- Testing strategies for Lynch syndrome in people with endometrial cancer: systematic reviews and economic evaluation.Health technology assessment (Winchester, England) · 2021Pooled it
- Diagnostic Accuracy of Immunohistochemistry for Mismatch Repair Proteins as Surrogate of Microsatellite Instability Molecular Testing in Endometrial Cancer.Pathology oncology research : POR · 2020Pooled it
- Characterizing Gynecological Cancers with the Uncommon dMMR/MSS Phenotype in Lynch Syndrome Patients.Journal of clinical medicine · 2026Review
- Traditional and New Views on MSI-H/dMMR Endometrial Cancer.Biomolecules · 2025Review
- Radiomics in sporadic microsatellite instable, mismatch repair deficient and Lynch syndrome-associated pancreatic ductal adenocarcinoma: a pilot study.Frontiers in oncology · 2025Article
- Case Report: A case of synchronous multiple early gastric cancer with a microsatellite instability-high phenotype.Frontiers in oncology · 2025Article
- Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.International journal of clinical oncology · 2024Article
- Deep learning to assess microsatellite instability directly from histopathological whole slide images in endometrial cancer.NPJ digital medicine · 2024Article
- Detecting Microsatellite Instability in Endometrial, Colon, and Stomach Cancers Using Targeted NGS.Cancers · 2023Article
- Context-dependent environmental associations with endometrial cancer histotype and genotype.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023Article
- American Gastroenterological Association Institute and College of American Pathologists Quality Measure Development for Detection of Mismatch Repair Deficiency and Lynch Syndrome Management.Gastroenterology · 2022Article
- Endometrial cancer.Nature reviews. Disease primers · 2021Review
- Article
- Long-Term Survival and Clinicopathological Implications of DNA Mismatch Repair Status in Endometrioid Endometrial Cancers in Hong Kong Chinese Women.Biomedicines · 2021Article
- Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population.International journal of clinical oncology · 2021Article
- Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer.Scientific reports · 2021Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Variable Expression of MSH6 in Endometrial Carcinomas With Intact Mismatch Repair and With MLH1 Loss Due to MLH1 Methylation.International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists · 2020Article
- Integrated analysis of immune-related genes in endometrial carcinoma.Cancer cell international · 2020Article
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6 authors.
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Abstract
Universal testing for Lynch syndrome is now a routine component of the diagnostic work-up of endometrial cancer patients. The purpose of this study was to identify prospectively the barriers to universal screening based on a tissue testing approach [microsatellite instability (MSI) analysis, IHC for DNA mismatch repair proteins, and MLH1 methylation analysis]. Endometrial carcinoma patients (n = 213) prospectively underwent microsatellite instability and IHC testing for expression of DNA mismatch repair (MMR) proteins. Patients with low (MSI-L) or high (MSI-H) levels of tumor MSI or immunohistochemical loss of MLH1 (and absent MLH1 methylation), MSH2, MSH6, or PMS2 were referred to a genetic counselor for consideration of germline testing. Six discordances (3.1% of tested cases) between IHC and MSI were identified. Half of these exhibited heterogeneous immunohistochemical loss of MLH1/PMS2 and were microsatellite stable (MSS). Of the remaining cases, one was MSS with immunohistochemical loss of MSH6, one was MSS with immunohistochemical loss of MLH1/PMS2 and absent MLH1 promoter methylation, and one was MSI-H with intact expression of DNA MMR proteins. Four patients had MSI-L tumors with intact immunohistochemical protein expression; the clinical significance of MSI-L in endometrial cancer is unclear. Eight patients did not have germline mutations despite tissue testing suggesting Lynch syndrome. Including cases with insufficient tissue for testing and patients declining tissue or germline testing, we encountered significant barriers to universal screening in 13.6% of screened patients (29/213) that preclude designation of a tumor as sporadic or hereditary. Cancer Prev Res; 10(2); 108-15. ©2016 AACR.
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