ArticleEuropean journal of human genetics : EJHG2021
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 28 citations in OpenAlex.
- The Role of Germline Transposable Element Insertions in Pediatric Cancer Predisposition.Cancer research communications · 2026Article
- Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing.Familial cancer · 2026Article
- Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.NPJ genomic medicine · 2026Article
- NovelFrontiers in medicine · 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
- Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.bioRxiv : the preprint server for biology · 2025Article
- Genome-wide association study of Northern corn leaf blight (NCLB) resistance using temperate and subtropical maize recombinant inbred lines.BMC genomics · 2025Article
- Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.International journal of clinical oncology · 2024Article
- A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.European journal of human genetics : EJHG · 2024Article
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Insertion of 643bp Retrotransposon Upstream ofAnimals : an open access journal from MDPI · 2023Article
- Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.BMC medical genomics · 2023Review
- PlantLTRdb: An interactive database for 195 plant species LTR-retrotransposons.Frontiers in plant science · 2023Article
- Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.European journal of human genetics : EJHG · 2022Article
- A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.European journal of human genetics : EJHG · 2022Article
- Article
- Mechanisms of disease-associated SINE-VNTR-Alus.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Characterisation of the Function of a SINE-VNTR-Frontiers in molecular neuroscience · 2022Article
- Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression.NPJ Parkinson's disease · 2021Article
- Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome is an autosomal dominant hereditary cancer syndrome in which many cancers develop, the main one being colorectal cancer. Germline pathogenic variants in one of four mismatch repair (MMR) genes are known to be causative of this disease. Accurate diagnosis using genetic testing can greatly benefit the health of those affected. Recently, owing to the improvement of sequence techniques, complicated variants affecting the functions of MMR genes were discovered. In this study, we analyzed insertions of a retrotransposon-like sequence in exon 5 of the MSH6 gene and exon 3 of the MSH2 gene found in Japanese families suspected of having Lynch syndrome. Both of these insertions induced aberrant splicing, and these variants were successfully identified by mRNA sequencing or visual observation of mapping results, although a standard DNA-seq analysis pipeline failed to detect them. The insertion sequences were ~2.5 kbp in length and were found to have the structure of an SVA retrotransposon (SVA). One SVA sequence was not present in the hg19 or hg38 reference genome, but was in a Japanese-specific reference sequence (JRGv2). Our study illustrates the difficulties of identifying SVA insertions in disease genes, and that the possibility of polymorphic insertions should be considered when analyzing mobile elements.
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