ArticleOncogene2005
Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 83 citations in OpenAlex.
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Inflammasomes and pyroptosis in cancer: mechanisms and therapeutic advances.Journal of hematology & oncology · 2025Review
- Carcinogenesis trajectories.Frontiers in cell and developmental biology · 2025Article
- Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.Journal of the National Cancer Institute · 2024Article
- Lynch syndrome cancer vaccines: A roadmap for the development of precision immunoprevention strategies.Frontiers in oncology · 2023Review
- Intratumor heterogeneity: the hidden barrier to immunotherapy against MSI tumors from the perspective of IFN-γ signaling and tumor-infiltrating lymphocytes.Journal of hematology & oncology · 2021Review
- Recurrent Frameshift Neoantigen Vaccine Elicits Protective Immunity With Reduced Tumor Burden and Improved Overall Survival in a Lynch Syndrome Mouse Model.Gastroenterology · 2021Article
- Immunology of Lynch Syndrome.Current oncology reports · 2021Review
- Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.PloS one · 2021Article
- Accurately estimating the length distributions of genomic micro-satellites by tumor purity deconvolution.BMC bioinformatics · 2020Article
- Nucleic Acid Sensors and Programmed Cell Death.Journal of molecular biology · 2020Review
- Immune Activation in Mismatch Repair-Deficient Carcinogenesis: More Than Just Mutational Rate.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Review
- A complex microsatellite at chromosome 7q33 as a new prognostic marker of colorectal cancer.Oncotarget · 2017Article
- Grape seed proanthocyanidins prevent irradiation-induced differentiation of human lung fibroblasts by ameliorating mitochondrial dysfunction.Scientific reports · 2017Article
- Article
- AIM2 regulates viability and apoptosis in human colorectal cancer cells via the PI3K/Akt pathway.OncoTargets and therapy · 2017Article
- Inflammasome-independent role of AIM2 in suppressing colon tumorigenesis via DNA-PK and Akt.Nature medicine · 2015Article
- Coding Microsatellite Frameshift Mutations Accumulate in Atherosclerotic Carotid Artery Lesions: Evaluation of 26 Cases and Literature Review.Molecular medicine (Cambridge, Mass.) · 2015Article
- Functional characterization of the tumor-suppressor MARCKS in colorectal cancer and its association with survival.Oncogene · 2015Article
- Applicability of next generation sequencing technology in microsatellite instability testing.Genes · 2015Article
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellite instability (MSI) occurs in most hereditary nonpolyposis colorectal cancers (HNPCC) and less frequently in sporadic tumors as the result of DNA mismatch repair (MMR) deficiency. Instability at coding microsatellites (cMS) in specific target genes causes frameshift mutations and functional inactivation of affected proteins, thereby providing a selective growth advantage to MMR deficient cells. At present, little is known about Selective Target Gene frameshift mutations in preneoplastic lesions. In this study, we examined 30 HNPCC-associated MSI-H colorectal adenomas of different grades of dysplasia for frameshift mutations in 26 cMS-bearing genes, which, according to our previous model, represent Selective Target genes of MSI. About 30% (8/26) of these genes showed a high mutation frequency (> or =50%) in colorectal adenomas, similar to the frequencies reported for colorectal carcinomas. Mutations in one gene (PTHL3) occurred significantly less frequently in MSI adenomas compared to published mutation rates in MSI carcinomas (36.0 vs 85.7%, P=0.023). Biallelic inactivation was observed in nine genes, thus emphasizing the functional impact of cMS instability on MSI tumorigenesis. Some genes showed a high frequency of frameshift mutations already at early stages of MSI colorectal tumorigenesis that increased with grade of dysplasia and transition to carcinoma. These include known Target Genes like BAX and TGFBR2, as well as three novel candidates, MACS, NDUFC2, and TAF1B. Overall, we have identified genes of potential relevance for the initiation and progression of MSI tumorigenesis, thus representing promising candidates for novel diagnostic and therapeutic approaches directed towards MMR-deficient tumors.
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