ArticleGynecologic oncology2014
Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.
Article in Gynecologic oncology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled it.
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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
38 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
- The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Guideline
- Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.Familial cancer · 2019Trial
- Genetic investigation of a Tunisian family with Lynch syndrome: a case report.Frontiers in oncology · 2025Article
- Universal testing in endometrial cancer in Sweden.Hereditary cancer in clinical practice · 2024Article
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- Article
- Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.Genes · 2023Article
- Adoption of Universal Testing in Endometrial Cancers for Microsatellite Instability Using Next-Generation Sequencing.JCO precision oncology · 2023Article
- MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutation.Gynecologic oncology · 2023Article
- Immune checkpoint blockades in gynecological cancers: A review of clinical trials.Acta obstetricia et gynecologica Scandinavica · 2022Review
- The Role of Immunohistochemistry Markers in Endometrial Cancer with Mismatch Repair Deficiency: A Systematic Review.Cancers · 2022Review
- Interventions to improve delivery of cancer genetics services in the United States: A scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Mismatch Repair Universal Screening of Endometrial Cancers (MUSE) in a Canadian Cohort.Current oncology (Toronto, Ont.) · 2021Article
- The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.PLoS medicine · 2020Article
- Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer.Journal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
objectiveDetermine factors impacting the uptake of genetic counseling and results of genetic testing following universal tumor testing for Lynch syndrome in patients with endometrial cancer.
methodsThe study population consisted of two unselected cohorts of endometrial cancer patients, 408 identified retrospectively and 206 identified prospectively. Immunohistochemistry for mismatch repair protein expression and/or microsatellite instability analysis was performed on these tumors. MLH1 methylation analysis was performed on tumors with loss of MLH1 protein. Tumor studies were considered suggestive of Lynch Syndrome if they showed immunohistochemical loss of MSH2, MSH6 or PMS2, loss of MLH1 without MLH1 promoter methylation, and/or microsatellite instability. Participants with suggestive tumor studies were contacted and offered genetic counseling and testing.
resultsIn the retrospective cohort, 11% had tumor studies suggestive of Lynch syndrome, and 42% was seen for genetic counseling. A germline mutation was detected in 40%, and one had a variant of uncertain significance. In the prospective cohort, 8.7% of patients had tumor testing suggestive of Lynch syndrome; 72% were seen for genetic counseling. Germline mutations were found in 40%, and one had a variant of uncertain significance. Common challenges included timing of re-contact, age, perceived lack of relevance, inability to travel and limited insurance coverage.
conclusionsThere are several barriers to genetic counseling and testing follow-up after universal tumor testing, and uninformative genetic test results present a management challenge. It is important to consider these limitations when implementing an approach to screening endometrial cancer patients for Lynch syndrome.
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