ArticleHuman genetics2004
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 38 citations in OpenAlex.
- Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion.BioMed research international · 2013Trial
- Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing.Familial cancer · 2026Article
- Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review.Hereditary cancer in clinical practice · 2025Article
- Transposable elements that have recently been mobile in the human genome.BMC genomics · 2021Article
- Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.Genes, chromosomes & cancer · 2021Article
- Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance.Journal of clinical medicine · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- A rare large duplication of MLH1 identified in Lynch syndrome.Hereditary cancer in clinical practice · 2021Article
- (Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.International journal of molecular sciences · 2020Article
- High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer.British journal of cancer · 2019Article
- Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.Familial cancer · 2017Article
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- Extensive somatic L1 retrotransposition in colorectal tumors.Genome research · 2012Article
- The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.Journal of human genetics · 2005Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is an autosomal, dominantly inherited disease accounting for about 1%-5% of all colorectal cancer cases. HNPCC predisposition is caused by germline mutations in at least five genes coding for DNA mismatch repair (MMR) proteins. More than 400 MMR gene mutations have been identified in HNPCC patients. About 90% of mutations affect the MLH1 and MSH2 genes. The mutational spectrum mainly includes point mutations and small deletions or insertions. Here, we report a large 184 base-pair Alu insertion mutation in exon 6 of the MSH2 gene in a German HNPCC family. The inserted sequence contains repetitive Alu sequence elements that present the highest homology with the old Alu J subfamily. The Alu J insertion was most likely derived from Alu-mediated recombination, since Alu J elements have been found close to the insertion site in adjacent introns, and since elements pivotal for Alu retrotransposition are missing. Our results suggest that the recombination event occurred at least one generation ago. This is the first report of an Alu insertion in the coding sequence of a MMR gene as the cause of HNPCC. Our data thus further extend the spectrum of MMR gene mutations causative for HNPCC.
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