ArticleBritish journal of cancer2015
Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.
Article in British journal of cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Why are Some Tissues More Vulnerable? Revisiting Tissue Specificity in Hereditary Cancer Syndromes.Molecular diagnosis & therapy · 2026Review
- A set cover algorithm identifies minimal circulating tumour DNA sequencing targets for colorectal cancer detection.Scientific reports · 2025Article
- Generation of frameshift-mutated TGFβR2-specific T cells in healthy subjects following administration with cancer vaccine candidate FMPV-1/GM-CSF in a phase 1 study.Cancer immunology, immunotherapy : CII · 2025Article
- Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.Journal of the National Cancer Institute · 2024Article
- Triple kill: DDR inhibitors, radiotherapy and immunotherapy leave cancer cells with no escape.Acta biochimica et biophysica Sinica · 2022Review
- Genomic landscape of colorectal carcinogenesis.Journal of cancer research and clinical oncology · 2022Review
- Activin a Receptor Type 2A Mutation Affects the Tumor Biology of Microsatellite Instability-High Gastric Cancer.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2021Article
- Review
- From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome.International journal of molecular sciences · 2021Review
- Onco-ontogeny recapitulates phylogeny - a consideration.Oncogene · 2021Article
- Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.PloS one · 2021Article
- Transforming Growth Factor-β Signaling Pathway in Colorectal Cancer and Its Tumor Microenvironment.International journal of molecular sciences · 2019Review
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
- Colorectal cancer: genetic abnormalities, tumor progression, tumor heterogeneity, clonal evolution and tumor-initiating cells.Medical sciences (Basel, Switzerland) · 2018Review
- Multispectral imaging reveals hyper active TGF-β signaling in colorectal cancer.Cancer biology & therapy · 2018Article
- RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.Familial cancer · 2018Article
- Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.Oncotarget · 2017Article
- Biomarker correlation network in colorectal carcinoma by tumor anatomic location.BMC bioinformatics · 2017Article
- TGF-β signaling in liver and gastrointestinal cancers.Cancer letters · 2016Review
- The mutational profile and infiltration pattern of murine MLH1-/- tumors: concurrences, disparities and cell line establishment for functional analysis.Oncotarget · 2016Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundWe previously reported that the target genes in sporadic mismatch repair (MMR)-deficient colorectal carcinomas (CRCs) in the distal colon differ from those occurring elsewhere in the colon. This study aimed to compare the target gene mutational pattern in microsatellite instability (MSI) CRC from Lynch syndrome patients stratified by tumour location and germline mutation, as well as with that of sporadic disease.
methodsA series of CRC from Lynch syndrome patients was analysed for MSI in genes predicted to be selective MSI targets and known to be involved in several pathways of colorectal carcinogenesis.
resultsThe most frequently mutated genes belong to the TGF-β superfamily pathway, namely ACVR2A and TGFBR2. A significantly higher frequency of target gene mutations was observed in CRC from patients with germline mutations in MLH1 or MSH2 when compared with MSH6. Mutations in microsatellite sequences (A)7 of BMPR2 and (A)8 of MSH3 were significantly more frequent in the distal CRC. Additionally, we observed differences in MSH3 and TGFBR2 mutational frequency between Lynch syndrome and sporadic MSI CRC regarding tumour location.
conclusionsOur results indicate that the pattern of genetic changes differs in CRC depending on tumour location and between Lynch syndrome and sporadic MSI CRC, suggesting that carcinogenesis can occur by different pathways even if driven by generalised MSI.
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