ArticleGut2005
Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
Article in Gut, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 125 citations in OpenAlex.
- Deficient Mismatch Repair and Microsatellite Instability in Solid Tumors.International journal of molecular sciences · 2025Review
- Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?Hereditary cancer in clinical practice · 2021Article
- Immunology of Lynch Syndrome.Current oncology reports · 2021Review
- Different surgical outcome and follow-up status between dMMR and pMMR colorectal cancer patients who fulfilled with Amsterdam-II criteria.World journal of surgical oncology · 2020Article
- Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.BMC cancer · 2020Article
- Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.Frontiers in oncology · 2020Article
- Prophylactic Surgery and Extended Oncologic Radicality in Gastric and Colorectal Hereditary Cancer Syndromes.Visceral medicine · 2019Review
- Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families.Journal of the National Cancer Institute · 2019Article
- Familial Colorectal Cancer Type X.Current genomics · 2017Review
- Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description.International journal of hematology-oncology and stem cell research · 2017Article
- DNA Methylation Identifies Loci Distinguishing Hereditary Nonpolyposis Colorectal Cancer Without Germ-Line MLH1/MSH2 Mutation from Sporadic Colorectal Cancer.Clinical and translational gastroenterology · 2016Article
- Clinical features of colorectal cancer patients in advanced age: a population-based approach.Internal and emergency medicine · 2016Article
- Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature.Journal of gastrointestinal cancer · 2015Article
- Milestones of Lynch syndrome: 1895-2015.Nature reviews. Cancer · 2015Review
- Familial colorectal cancer type X: genetic profiles and phenotypic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Review
- Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.Nature communications · 2014Article
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer.British journal of cancer · 2014Article
- Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer.Familial cancer · 2014Article
- New genes emerging for colorectal cancer predisposition.World journal of gastroenterology · 2014Review
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary non-polyposis colorectal cancer (HNPCC) is clinically defined by familial clustering of colorectal cancer and other associated tumours.
methodsBy thorough molecular and clinical evaluation of 41 families, two different groups were characterised: group 1, 25 families with truncating mutations in MLH1 or MSH2 (12 novel mutations); and group 2, 16 Amsterdam positive families without mutations in these genes and without microsatellite instability in their corresponding tumours.
resultsSignificant clinical differences between these two groups were found. Firstly, earlier age of onset for all colorectal cancers (median 41 v 55 years; p < 0.001) and all tumours (median 43 v 56 years; p = 0.022) was observed, comparing groups 1 and 2. Secondly, 68% of the index colorectal cancers were localised proximally of the splenic flexure in group 1 compared with 14% in group 2 (p < 0.010). Thirdly, more synchronous and metachronous colorectal (p = 0.017) and extracolorectal tumours (p < 0.001) were found in group 1. Fourthly, a higher colorectal adenoma/carcinoma ratio (p = 0.030) and a tendency towards more synchronous or metachronous adenomas in group 2 (p = 0.084) was observed, indicating a slower progression of adenomas to carcinomas. As three mutation negative tumours revealed chromosomal instability after comparative genomic hybridisation, these tumours may be caused by one or more highly penetrant disease alleles from the chromosomal instability pathway.
conclusionThese data show that HNPCC includes at least two entities with clinical and molecular differences. This will have implications for surveillance programmes and for cancer research.
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