ArticleJournal of medical genetics2008
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Article in Journal of medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 54 citations in OpenAlex.
- Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.PloS one · 2013Trial
- Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.Molecular genetics & genomic medicine · 2024Article
- PMS2-associated Lynch syndrome: Past, present and future.Frontiers in oncology · 2023Review
- BiallelicGenes · 2022Article
- Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors.Scientific reports · 2021Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Sensitive alignment using paralogous sequence variants improves long-read mapping and variant calling in segmental duplications.Nucleic acids research · 2020Article
- Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.Familial cancer · 2018Article
- Genetic intersection of male infertility and cancer.Fertility and sterility · 2018Review
- Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Nature communications · 2017Article
- PMS2 monoallelic mutation carriers: the known unknown.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Article
- Prostate cancer incidence in males with Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Recurrent and founder mutations in the PMS2 gene.Clinical genetics · 2013Article
- Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Genes, chromosomes & cancer · 2012Article
- An American founder mutation in MLH1.International journal of cancer · 2012Article
- Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulation.PloS one · 2012Article
- Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2011Article
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Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundWhen compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences.
methodsUsing a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis.
resultsWe have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency <0.05) at a single nucleotide polymorphism (SNP) in exon 11, and have been shown to possess a short common haplotype, allowing us to calculate that the mutation arose around 1625 years ago (65 generations; 95% confidence interval 22 to 120).
conclusionAncestral analysis indicates that this mutation is enriched in individuals with British and Swedish ancestry. We estimate that there are >10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands' families, would suggest that this is a prevalent mutation with reduced penetrance.
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