ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016
PMS2 monoallelic mutation carriers: the known unknown.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- Birth Cohort Effects on Colorectal Cancer Onset in Lynch Syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2026Article
- In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome.BMC genomic data · 2024Article
- Mutations in Mismatch Repair Genes and Microsatellite Instability Status in Pancreatic Cancer.Cancers · 2024Article
- Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.Molecular genetics & genomic medicine · 2024Article
- Screening and Management of Lynch Syndrome: The Chinese Experience.Clinics in colon and rectal surgery · 2023Review
- Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.BMC medical genomics · 2023Review
- Article
- Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.JCO oncology practice · 2022Review
- Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.Frontiers in oncology · 2022Article
- Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation inFrontiers in oncology · 2022Article
- Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.JCO precision oncology · 2021Article
- Mismatch Repair Proteins in Oropharyngeal Squamous Cell Carcinoma: A Retrospective Observational Study.Head and neck pathology · 2021Observational
- PMS2: a potential prognostic protein marker in oral squamous cell carcinoma.Medicina oral, patologia oral y cirugia bucal · 2021Article
- Resolving misalignment interference for NGS-based clinical diagnostics.Human genetics · 2021Article
- Risk of Metachronous Colorectal Neoplasm after a Segmental Colectomy in Lynch Syndrome Patients According to Mismatch Repair Gene Status.Journal of the American College of Surgeons · 2020Article
- Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.Annals of laboratory medicine · 2020Article
- Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies.Nature reviews. Gastroenterology & hepatology · 2019Review
- Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees.European journal of human genetics : EJHG · 2019Article
- Response to Yang et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 19 institutions in 4 countries.
Funding
Abstract
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for affected individuals. Several studies have demonstrated a reduced penetrance for monoallelic carriers of PMS2 mutations compared with the other mismatch repair (MMR) genes, but clinical management guidelines have largely proposed the same screening recommendations for all MMR gene carriers. The authors considered whether enough evidence existed to propose new screening guidelines specific to PMS2 mutation carriers with regard to age at onset and frequency of colonic screening. Published reports of PMS2 germ-line mutations were combined with unpublished cases from the authors' research registries and clinical practices, and a discussion of potential modification of cancer screening guidelines was pursued. A total of 234 monoallelic PMS2 mutation carriers from 170 families were included. Approximately 8% of those with colorectal cancer (CRC) were diagnosed before age 30, and each of these tumors presented on the left side of the colon. As it is currently unknown what causes the early onset of CRC in some families with monoallelic PMS2 germline mutations, the authors recommend against reducing cancer surveillance guidelines in families found having monoallelic PMS2 mutations in spite of the reduced penetrance.Genet Med 18 1, 13-19.
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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.