ArticleBMC medical genetics2010
High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.Familial cancer · 2015Pooled it
- Gastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.Familial cancer · 2025Article
- STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome.Cureus · 2023Article
- Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.Cancer research and treatment · 2022Article
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.International journal of molecular sciences · 2020Article
- Distinct promoter methylation patterns of LKB1 in the hamartomatous polyps of Peutz-Jeghers syndrome and its potential in gastrointestinal malignancy prediction.Orphanet journal of rare diseases · 2020Article
- Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.World journal of gastroenterology · 2020Article
- Systematic Identification of Key Functional Modules and Genes in Gastric Cancer.BioMed research international · 2020Article
- Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.BioMed research international · 2020Article
- Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11.Clinical journal of gastroenterology · 2019Review
- Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.Familial cancer · 2019Article
- An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.Familial cancer · 2018Review
- Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.Familial cancer · 2016Article
- First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.Familial cancer · 2016Article
- Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.BMJ case reports · 2015Article
- Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review).Oncology letters · 2013Article
- Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.Gastroenterology · 2013Article
- High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.BMC medical genetics · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPeutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has been shown to be associated with germline mutations in the STK11/LKB1 tumor suppressor gene. The aim of the present study was to characterize Hungarian PJS patients with respect to germline mutation in STK11/LKB1 and their association to disease phenotype.
methodsMutation screening of 21 patients from 13 PJS families were performed using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). Comparative semi-quantitative sequencing was applied to investigate the mRNA-level effects of nonsense and splice-affecting mutations.
resultsThirteen different pathogenic mutations in STK11, including a high frequency of large genomic deletions (38%, 5/13), were identified in the 13 unrelated families studied. One of these deletions also affects two neighboring genes (SBNO2 and GPX4), located upstream of STK11, with a possible modifier effect. The majority of the point mutations (88%, 7/8) can be considered novel. Quantification of the STK11 transcript at the mRNA-level revealed that the expression of alleles carrying a nonsense or frameshift mutation was reduced to 30-70% of that of the wild type allele. Mutations affecting splice-sites around exon 2 displayed an mRNA processing pattern indicative of co-regulated splicing of exons 2 and 3.
conclusionsA combination of sensitive techniques may assure a high (100%) STK11 mutation detection frequency in PJS families. Characterization of mutations at mRNA level may give a deeper insight into the molecular consequences of the pathogenic mutations than predictions made solely at the genomic level.
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