ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Article 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. An erratum has been issued. Cited by 11 papers.
What it found
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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.
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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
11 citing papers in PubMed, 18 citations in OpenAlex.
- NovelFrontiers in medicine · 2026Article
- PMS2-associated Lynch syndrome: Past, present and future.Frontiers in oncology · 2023Review
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants inJournal of clinical medicine · 2021Article
- A Lynch syndrome-associated mutation at a Bergerat ATP-binding fold destabilizes the structure of the DNA mismatch repair endonuclease MutL.The Journal of biological chemistry · 2020Article
- Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?Familial cancer · 2020Article
- An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Cancer Risks for PMS2-Associated Lynch Syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- SNP association study in PMS2-associated Lynch syndrome.Familial cancer · 2018Article
- Shorter telomere length increases age-related tumor risks in von Hippel-Lindau disease patients.Cancer medicine · 2017Article
- Development and Validation of the PREMMJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Article
Corrections and comments
- Erratum issuedCORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.2016 · Olderode, Maran [corrected to Olderode-Berends, M J W]
Authors and funding
27 authors at 13 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeLynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations in the PMS2 gene. We wished to establish whether genotype and/or parent-of-origin effects (POE) explain (part of) the reported variability in severity of the phenotype.
methodsEuropean PMS2 mutation carriers (n = 381) were grouped and compared based on RNA expression and whether the mutation was inherited paternally or maternally.
resultsMutation carriers with loss of RNA expression (group 1) had a significantly lower age at CRC diagnosis (51.1 years vs. 60.0 years, P = 0.035) and a lower age at EC diagnosis (55.8 years vs. 61.0 years, P = 0.2, nonsignificant) compared with group 2 (retention of RNA expression). Furthermore, group 1 showed slightly higher, but nonsignificant, hazard ratios (HRs) for both CRC (HR: 1.31, P = 0.38) and EC (HR: 1.22, P = 0.72). No evidence for a significant parent-of-origin effect was found for either CRC or EC.
conclusionsPMS2 mutation carriers with retention of RNA expression developed CRC 9 years later than those with loss of RNA expression. If confirmed, this finding would justify a delay in surveillance for these cases. Cancer risk was not influenced by a parent-of-origin effect.Genet Med 18 4, 405-409.
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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.