ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2013
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
88 citing papers in PubMed, 6 syntheses or guidelines pooled it, 181 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- 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
- Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.Familial cancer · 2021Pooled it
- Health system interventions to integrate genetic testing in routine oncology services: A systematic review.PloS one · 2021Pooled it
- Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review.Familial cancer · 2014Pooled it
- A WeChat-Based Decision Aid Intervention to Promote Informed Decision-Making for Family Members Regarding the Genetic Testing of Patients With Colorectal Cancer: Randomized Controlled Trial.Journal of medical Internet research · 2025Trial
- Clinicopathological characteristics and prognostic outcomes in consecutive Japanese patients with high microsatellite-instability colorectal cancer: real-world data from universal screening.BMC gastroenterology · 2026Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Impact of COVID-19 on Universal Tumor Screening, Referral Rates and Attendance at Cancer Genetic Counseling at a Safety-Net University Hospital.Current oncology (Toronto, Ont.) · 2025Article
- The Clinical Outcomes Among Patients Under 60 Years Old with Lynch Syndrome: Variations Based on Different Mutation Patterns.International journal of molecular sciences · 2025Review
- Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland.Familial cancer · 2024Article
- Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions.Hereditary cancer in clinical practice · 2024Article
- Screening and surveillance for hereditary colorectal cancer.Intestinal research · 2024Review
- Biomarker characterization in endometrial cancer in Europe: first survey data analysis from 69 pathological academic and hospital labs.Pathologica · 2024Article
- Screening and Management of Lynch Syndrome: The Chinese Experience.Clinics in colon and rectal surgery · 2023Review
- In person and virtual process mapping experiences to capture and explore variability in clinical practice: application to genetic referral pathways across seven Australian hospital networks.Translational behavioral medicine · 2023Article
- Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan.Hereditary cancer in clinical practice · 2023Article
- Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger.Journal of the National Comprehensive Cancer Network : JNCCN · 2023Article
- Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.Cancer research and treatment · 2023Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
purposeIn 2009, the Evaluation of Genomic Applications in Practice and Prevention recommended that all colorectal cancers (CRCs) be screened for Lynch syndrome (LS) through microsatellite instability (MSI) or immunohistochemistry (IHC). No studies report how this process is implemented on a health system-wide basis.
methodsSince 2004, Cleveland Clinic has screened CRC specimens with MSI/IHC. Between January 2004 and July 2007, MSI/IHC results went only to the colorectal surgeon (approach 1). Between August 2007 and June 2008, colorectal surgeons and a genetic counselor received the MSI/IHC results, and the counselor e-mailed the colorectal surgeon regarding appropriate patients for genetic counseling (GC) referral (approach 2). After July 2008, the colorectal surgeon and counselor received MSI/IHC results, but the counselor contacted the patient to facilitate referral (approach 3). In approaches 2 and 3, patients were presumed to have sporadic CRC if the tumor lacked MLH1 expression and was also BRAF mutated or if the patient was diagnosed at age greater than 72 years and had no cancer family history.
resultsAbnormal MSI/IHC results occurred in 178 (16%) of 1,108 patients. In approach 1, 21 (55%) of 38 patients with abnormal MSI/IHC were referred for GC, 12 (32%) of 38 underwent GC, and 10 (26%) of 38 underwent genetic testing (GT). In approach 2, nine (82%) of 11 patients were referred for GC, seven (64%) of 11 underwent GC, and five (45%) of 11 underwent GT. In approach 3, 56 (100%) of 56 patients were referred for GC, 40 (71%) of 56 underwent GC, and 37 (66%) of 56 underwent GT. Time from referral to GC was 10-fold quicker in approach 3 than approach 1.
conclusionImplementation of universal MSI/IHC with GC/GT, along with effective multidisciplinary communication and plans of responsibility for patient contact, resulted in increased identification of patients with LS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.