ArticleGut2006
Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
Article in Gut, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 101 citations in OpenAlex.
- Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative.Familial cancer · 2012Trial
- Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial.Virchows Archiv : an international journal of pathology · 2010Trial
- Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients.Hereditary cancer in clinical practice · 2025Article
- Clinical Molecular Immunohistochemistry Mismatch Repair Mutations in Lynch Syndrome in Patients Under 50 Years: A Systematic Review.Biomedicines · 2025Review
- A Rare Presentation of Pediatric Lynch Syndrome Presenting with Recurrent Adenomatous Polyps.JPGN reports · 2023Article
- Phenolic Phytochemicals for Prevention and Treatment of Colorectal Cancer: A Critical Evaluation of In Vivo Studies.Cancers · 2023Review
- Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.BMC medical genomics · 2023Review
- Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.BMC gastroenterology · 2021Article
- Microsatellite Instability and MMR Genes Abnormalities in Canine Mammary Gland Tumors.Diagnostics (Basel, Switzerland) · 2020Article
- Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer.International journal of cancer · 2019Article
- Article
- Factors Associated With the Performance of Extended Colonic Resection vs. Segmental Resection in Early-Onset Colorectal Cancer: A Population-Based Study.Clinical and translational gastroenterology · 2016Article
- Childhood cancers in families with and without Lynch syndrome.Familial cancer · 2015Article
- Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery.The American journal of gastroenterology · 2015Article
- Early-onset colorectal cancer: a sporadic or inherited disease?World journal of gastroenterology · 2014Review
- Early-onset colorectal cancer patients without family history are "at very low risk" for lynch syndrome.Journal of experimental & clinical cancer research : CR · 2014Article
- Metastatic colorectal carcinoma mimicking primary ovarian carcinoma presenting as 'giant' ovarian tumors in an individual with probable Lynch syndrome: a case report.Journal of medical case reports · 2013Article
- Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.Familial cancer · 2013Article
- Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.Familial cancer · 2013Review
- Radiotherapy response in microsatellite instability related rectal cancer.Korean journal of pathology · 2013Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise suspicion of the presence of germline DNA mismatch repair (MMR) gene mutations.
aimTo analyse the value of family history, microsatellite instability (MSI) analysis and MMR protein staining in the tumour to predict the presence of an MMR gene mutation in such patients.
methodsIn 281 patients diagnosed with CRC before the age of 50 years or with CRC and at least one additional HNPCC-associated cancer, germline mutation analysis in MLH1, MSH2 and MSH6 was carried out with denaturing gradient gel electrophoresis and multiplex ligation-dependent probe amplification. MSI analysis with five consensus markers and MMR protein staining for MLH1, MSH2 and MSH6 were carried out in the tumours.
results25 pathogenic mutations (8 in MLH1, 9 in MSH2 and 8 in MSH6) were found. MSI analysis missed three and immunohistochemistry (IHC) missed two mutation carriers. Sensitivities of family history, MSI analysis and IHC for the presence of a mutation were 76%, 82% and 88%, specificities were 64%, 70% and 84%, and positive predictive values were 19%, 23% and 38%, respectively. Multivariate analysis showed the highest odds ratio for IHC (38.3, 95% confidence interval 9.0 to 184). Prevalence of pathogenic germline MMR gene mutations in patients with CRC before the age of 50 years was 6% and in those with > or =2 HNPCC-associated tumours was 22%. In the second group, no mutation carriers were found among the 29 patients who were diagnosed with their first tumour after the age of 60 years.
conclusionFamily history, MSI analysis and IHC are indicative parameters to select patients with CRC for MMR gene mutation analysis. The data show that IHC is the best single selection criterion.
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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.