ReviewFamilial cancer2005
Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations.
Review in Familial cancer, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- Trial
- Germline mismatch repair gene mutations in children with tumors: a case series from two centers.Translational pediatrics · 2024Article
- Isolated colonic neurofibroma in the setting of Lynch syndrome: A case report and review of literature.World journal of gastrointestinal surgery · 2020Article
- Article
- Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carryingMolecular and clinical oncology · 2018Article
- Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome.Case reports in pathology · 2018Article
- Novel Implications in Molecular Diagnosis of Lynch Syndrome.Gastroenterology research and practice · 2017Review
- MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation.Familial cancer · 2016Article
- Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Journal of genetic counseling · 2014Article
- Genetic predispositions to childhood leukemia.Therapeutic advances in hematology · 2013Article
- Article
- Article
- Identifying cross-category relations in gene ontology and constructing genome-specific term association networks.BMC bioinformatics · 2013Article
- Article
- Anticipation in lynch syndrome: where we are where we go.Current genomics · 2011Article
- Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.Journal of genetic counseling · 2011Review
- Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Mutation research · 2010Review
- Msh6 protects mature B cells from lymphoma by preserving genomic stability.The American journal of pathology · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary nonpolyposis colon cancer (HNPCC) is the most common hereditary colon cancer syndrome. It is characterized by multiple colon as well as extracolonic cancers such as endometrial, ovarian and urinary tract cancers. In addition, it is well known that some cases of HNPCC can present with unique tumor spectrums such as sebaceous tumors, which is often referred to as the 'Muir-Torre' syndrome. In recent years there have been a few reports of families presenting with early onset of colon tumors along with café-au-lait spots and/or hematologic malignancies often associated with homozygous mutations involving one of the mismatch repair genes. In this article we have performed a comprehensive review of the entire medical literature to identify all cases with similar presentations reported in the literature and have summarized the clinical features and genetic test results of the same. The available data clearly highlight such presentations as a distinct clinical entity characterized by early onset of gastrointestinal tumors, hematologic malignancies as well as features of neurofibromatosis (easily remembered by the acronym ;CoLoN'; Colon tumors or/and Leukemia/Lymphoma or/and Neurofibromatosis features). Furthermore, there has also been some evidence that the neurofibromatosis type-1 gene is a mutational target of the mismatch repair deficiency that is seen in families with HNPCC, and that mlh1 deficiency can accelerate the development of leukemia in neurofibromatosis (Nf1) heterozygous mice. Recognition of this syndrome has significant importance in terms of earlier detection of cancers, cancer screening recommendations as well as genetic counseling offered to such families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.