ArticleClinical cancer research : an official journal of the American Association for Cancer Research2010
MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Validity of a two-antibody testing algorithm for mismatch repair deficiency testing in cancer; a systematic literature review and meta-analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Pooled it
- Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.Familial cancer · 2021Pooled it
- Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Clinicopathological Factors and Nomogram Construction for Lymph Node Metastasis in Early-Onset Colorectal Cancer.Journal of gastrointestinal cancer · 2025Article
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Prediction of long-term recurrence-free and overall survival in early-onset colorectal cancer: the ENCORE multi-centre study.NPJ precision oncology · 2025Article
- Discovery and validation of frameshift-derived neopeptides in Lynch syndrome: paving the way for novel cancer prevention strategies.Journal for immunotherapy of cancer · 2025Article
- Development of PowerMag System II for Isolation of Circulating Tumor Cells with Improved Purity.Biomedicines · 2025Article
- Bioinformatic analyses reveal the prognostic significance and potential role of ankyrin 3 (ANK3) in kidney renal clear cell carcinoma.Genomics & informatics · 2023Article
- Pan-cancer analysis and experimental validation of DTL as a potential diagnosis, prognosis and immunotherapy biomarker.BMC cancer · 2023Article
- Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.Translational andrology and urology · 2023Article
- Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review.Gastro hep advances · 2023Review
- Article
- Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Review
- An Update on the Epidemiology, Molecular Characterization, Diagnosis, and Screening Strategies for Early-Onset Colorectal Cancer.Gastroenterology · 2021Review
- Article
- Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.Genes, chromosomes & cancer · 2020Article
- Clinical and Genetic Characteristics of Colorectal Cancer in Persons under 50 Years of Age: A Review.Digestive diseases and sciences · 2019Review
- Characterization and Identification of Colorectal Cancer in Persons Younger Than 50 Years.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2019Observational
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
purposeEarly-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition. Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also been related to hereditary CRC. A systematic characterization of these two diseases has not been reported previously in this population. EXPERIMENTAL
designWe studied a retrospectively collected series of 140 patients ≤50 years old diagnosed with nonpolyposis CRC. Demographic, clinical, and familial features were obtained. Mismatch repair (MMR) deficiency was determined by microsatellite instability (MSI) analysis, and immunostaining for MLH1, MSH2, MSH6, and PMS2 proteins. Germline MMR mutations were evaluated in all MMR-deficient cases. Tumor samples with loss of MLH1 or MSH2 protein expression were analyzed for somatic methylation. Germline MUTYH mutations were evaluated in all cases. BRAF V600E and KRAS somatic mutational status was also determined.
resultsFifteen tumors (11.4%) were MSI, and 20 (14.3%) showed loss of protein expression (7 for MLH1/PMS2, 2 for isolated MLH1, 3 for MSH2/MSH6, 7 for isolated MSH6, and 1 for MSH6/PMS2). We identified 11 (7.8%) germline MMR mutations, 4 in MLH1, 1 in MSH2, and 6 in MSH6. Methylation analysis revealed one case with somatic MLH1 methylation. Biallelic MUTYH mutations were detected in four (2.8%) cases. KRAS and BRAF V600E mutations were present in 39 (27.9%) and 5 (3.6%) cases, respectively.
conclusionsLoss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC. Our findings prompt the inclusion of MSH6 and MUTYH screening as part of the genetic counseling of these patients and their relatives.
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