ArticleJournal of medical genetics2006
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 156 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
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.Cancer treatment and research · 2024Review
- Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.Journal of human genetics · 2023Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome.Cureus · 2023Article
- A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.BMC gastroenterology · 2022Article
- Review
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five.Molecular genetics & genomic medicine · 2020Article
- Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.World journal of gastroenterology · 2020Article
- Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.BioMed research international · 2020Article
- Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation.Scientific reports · 2019Article
- Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.Clinical and translational gastroenterology · 2019Article
- Must Peutz-Jeghers syndrome patients have theWorld journal of clinical cases · 2018Article
- An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.Familial cancer · 2018Review
- [LKB1 regulates epithelial-mesenchymal transition in Peutz-Jeghers hamartoma and intestinal epithelial cells].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2017Article
- A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.Familial cancer · 2017Article
- Response to Anastrozole Treatment in a Case with Peutz-Jeghers Syndrome and a Large Cell Calcifying Sertoli Cell Tumor.Journal of clinical research in pediatric endocrinology · 2017Article
- Duodenal cancer in a young patient with Peuts-Jeghers syndrome harboring an entire deletion of the STK11 gene.Clinical journal of gastroenterology · 2017Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using conventional methods in several studies. Exonic and whole gene deletion or duplication events cannot be detected by routine mutation screening methods.
objectiveTo seek evidence for LKB1 germline deletions or duplications by screening patients meeting clinical criteria for PJS but without detected mutations on conventional screening.
methodsFrom an original cohort of 76 patients, 48 were found to have a germline mutation by direct sequencing; the remaining 28 were examined using multiplex ligation dependent probe amplification (MLPA) analysis to detect LKB1 copy number changes.
resultsDeletions were found in 11 of the 28 patients (39%)--that is, 14% of all PJS patients (11/76). Five patients had whole gene deletions, two had the promoter and exon 1 deleted, and in one patient exon 8 was deleted. Other deletions events involved: loss of exons 2-10; deletion of the promoter and exons 1-3; and loss of part of the promoter. No duplications were detected. Nine samples with deletions were sequenced at reported single nucleotide polymorphisms to exclude heterozygosity; homozygosity was found in all cases. No MLPA copy number changes were detected in 22 healthy individuals.
conclusionsThese results lessen the possibility of a second PJS locus, as the detection rate of germline mutations in PJS patients was about 80% (59/76). It is suggested that MLPA, or a suitable alternative, should be used for routine genetic testing of PJS patients in clinical practice.
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