ArticleBritish journal of cancer2000
Extensive molecular screening for hereditary non-polyposis colorectal cancer.
Article in British journal of cancer, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.PloS one · 2013Pooled it
- Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard.Biostatistics (Oxford, England) · 2005Pooled it
- Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.Human mutation · 2026Article
- Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review.Gastro hep advances · 2023Review
- Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.Human pathology · 2020Article
- Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.Human mutation · 2019Article
- Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression.Familial cancer · 2017Article
- Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Immunohistochemistry and microsatellite instability analysis in molecular subtyping of colorectal carcinoma based on mismatch repair competency.International journal of clinical and experimental medicine · 2015Article
- Human mutL homolog 1 expression characteristic and prognostic effect on patients with sporadic colorectal cancer.International journal of clinical and experimental medicine · 2015Article
- Mismatch repair protein expression in colorectal cancer.Journal of gastrointestinal oncology · 2013Article
- Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats.The Journal of biological chemistry · 2012Article
- Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.Familial cancer · 2012Article
- An American founder mutation in MLH1.International journal of cancer · 2012Article
- Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.BMC cancer · 2009Article
- Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.BMC cancer · 2009Article
- Molecular analysis: microsatellity instability and loss of heterozygosity of tumor suppressor gene in hereditary non-polyposis colorectal cancers (HNPCC).Bosnian journal of basic medical sciences · 2009Article
- Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry.The Journal of molecular diagnostics : JMD · 2008Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic abnormalities underlying hereditary non-polyposis colorectal cancer (HNPCC) are germline mutations in one of five DNA mismatch repair genes or in the TGFbetaRII gene. The aim of our study was to evaluate the significance of simple tests performed on tumours to select appropriate candidates for germline mutational analysis. We studied three groups of patients, HNPCC kindreds fulfilling the International Collaborative Group (ICG) criteria (n = 10), families in which at least one of the criteria was not satisfied (n = 7) and sporadic colorectal cancer (CRC) diagnosed before the age of 50 (n = 17). We searched for microsatellite instability (MSI), presence of hMSH2 and hMLH1 germline mutations, expression of hMSH2, hMLH1 and p53 proteins in tumoural tissue samples by immunostaining. Fifteen out of 17 (88%) of HNPCC and incomplete HNPCC cases were MSI and eight pathogenic germline mutations in hMSH2 or hMLH1 were detected in these two groups (53%). All the 17 early-onset sporadic cases were MSS and no germline mutations were detected among the seven investigated cases. Thirteen out of 15 (81%) familial cases were MSI and p53 protein-negative, whereas 13/14 (93%) sporadic cases were MSS and strongly p53 protein-positive. This extensive molecular investigation shows that simple tests such as MS study combined with hMSH2 and hMLH1 protein immunostaining performed on tumoural tissues may provide valuable information to distinguish between familial, and probably hereditary, and sporadic CRC cases.
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