ArticleJournal of medical genetics1999
Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.Oncogene · 2002Trial
- Epidemiology, pathogenesis, biology and evolving management of MSI-H/dMMR cancers.Nature reviews. Clinical oncology · 2025Review
- Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers.Frontiers in immunology · 2025Article
- Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.JCO precision oncology · 2024Article
- Integrating surgical intervention and watch-and-wait approach in dMMR metastatic rectal cancer with pembrolizumab: a case report.Surgical case reports · 2024Article
- MSH6 germline mutations leading to Lynch syndrome-associated cholangiocarcinoma: a case report.Frontiers in oncology · 2024Article
- Review
- Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.Frontiers in oncology · 2023Article
- Review
- Improved NGS-based detection of microsatellite instability using tumor-only data.Frontiers in oncology · 2022Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- DNA Mismatch Repair Deficiency Detection in Colorectal Cancer by a New Microsatellite Instability Analysis System.Interdisciplinary sciences, computational life sciences · 2020Article
- Immune checkpoint inhibitors for the treatment of MSI-H/MMR-D colorectal cancer and a perspective on resistance mechanisms.British journal of cancer · 2019Review
- Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer.Cancers · 2019Review
- Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.Familial cancer · 2019Article
- MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.Haematologica · 2018Article
- Accuracy of four mononucleotide-repeat markers for the identification of DNA mismatch-repair deficiency in solid tumors.Journal of translational medicine · 2018Article
- Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.Molecular and clinical oncology · 2016Article
- Milestones of Lynch syndrome: 1895-2015.Nature reviews. Cancer · 2015Review
- Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.British journal of cancer · 2010Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Germline mutations in the MSH2 and MLH1 mismatch repair genes account for most cases of hereditary non-polyposis colon cancer syndrome (HNPCC). In addition, germline MSH2 and MLH1 mutations have been detected in patients with non-HNPCC early onset colorectal cancer. Germline MSH6 mutations appear to be rare in classical HNPCC families, but their frequency in young colorectal cancer cases has not been studied previously. In a population based study of early onset colorectal cancer (<50 years) investigated for tumour microsatellite instability (MSI), we identified a subgroup of tumours with MSI for mono- but not dinucleotide repeat markers (m-MSI+ group). In contrast to tumours with classical MSI for dinucleotide markers (d-MSI+), the m-MSI+ group cancers were mainly left sided (6/7). As MSH6 mutations in yeast and human cell lines are associated with weak (and preferential mononucleotide) MSI, the complete MSH6 gene coding region was sequenced in blood DNA from the five m-MSI+ cases available for analysis. A germline nonsense mutation was identified in an isolated case of early onset colorectal cancer (age 43 years). These results support previous findings that germline MSH6 mutations may not be associated with classical MSI and suggest a role for germline MSH6 mutations in isolated early onset colorectal cancer.
Indexed as
Identifiers
10507723PMC1734424What OpenQuestion holds
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.