ArticleAmerican journal of human genetics1998
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers.
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
39 citing papers in PubMed, 234 citations in OpenAlex.
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Review
- Determination of the frequency and distribution of APC, PIK3CA, and SMAD4 gene mutations in Ugandan patients with colorectal cancer.BMC cancer · 2024Article
- SEBACEOUS CARCINOMA OF THE EYELID AND MUIR-TORRE SYNDROME.Acta clinica Croatica · 2023Article
- Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome.Cureus · 2021Article
- A Case of Muir-Torre Syndrome.Cureus · 2021Article
- [Recurrent eyelid tumors with different dignities].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019Article
- Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?Familial cancer · 2019Article
- Generational Expression of Muir-Torre Syndrome in a Canadian Family.Case reports in dermatological medicine · 2016Article
- Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation.The Journal of clinical and aesthetic dermatology · 2016Article
- Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?BioMed research international · 2015Review
- Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.The Journal of investigative dermatology · 2015Article
- FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.Cancer research · 2014Article
- Muir-Torre syndrome: case report and molecular characterization.Sao Paulo medical journal = Revista paulista de medicina · 2014Article
- [Muir-Torre syndrome with previously undescribed frameshift mutation in the MSH2 gene].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2013Article
- 10 rare tumors that warrant a genetics referral.Familial cancer · 2013Review
- Simultaneous Muir-Torre and Turcot's syndrome: A case report and review of the literature.Surgical neurology international · 2013Article
- Identification of patients at risk for hereditary colorectal cancer.Clinics in colon and rectal surgery · 2012Article
- Initiation of genome instability and preneoplastic processes through loss of Fhit expression.PLoS genetics · 2012Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Muir-Torre syndrome (MTS) is an autosomal dominant disease defined by the coincidence of at least one sebaceous skin tumor and one internal malignancy. About half of MTS patients are affected by colorectal cancer. In a subgroup of MTS patients the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). The purpose of this study was to examine to what extent germ-line mutations in DNA MMR genes are the underlying cause of the MTS phenotype. We ascertained 16 MTS patients with sebaceous skin tumors and colorectal cancer, and we examined their skin and visceral tumors for microsatellite instability. All the patients exhibited high genomic instability in at least one tumor. The search for germ-line mutations in the hMSH2 and hMLH1 genes in 13 of the MTS patients revealed truncating mutations in 9 (69%): eight mutations in the hMSH2 gene and one in the hMLH1 gene. This is the first systematic search for germ-line mutations in patients ascertained on the basis of sebaceous skin tumors. Our results indicate that (1) MTS patients exhibit significantly more mutations in the hMSH2 gene than in the hMLH1 gene; and (2) the subpopulation of MTS patients who are also affected by colorectal cancer, irrespective of family history and age at onset of tumors, may have a likelihood for an underlying DNA MMR defect similar to that for patients with a family history fulfilling the strict clinical criteria for HNPCC.
Indexed as
Identifiers
What OpenQuestion holds
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.