ArticleBMC medical genetics2013
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.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 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
- Peutz-Jeghers syndrome withoutWorld journal of gastroenterology · 2023Trial
- Genetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz-Jeghers syndrome.World journal of surgical oncology · 2024Article
- Review
- Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations.International journal of molecular sciences · 2021Review
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Identification of SNPs and InDels associated with berry size in table grapes integrating genetic and transcriptomic approaches.BMC plant biology · 2020Article
- First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.Familial cancer · 2016Article
- Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations and No Evidence of Malignancy During 14 Years Follow Up.Iranian Red Crescent medical journal · 2015Article
- Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.BMJ case reports · 2015Article
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Authors and funding
16 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPeutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence has been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most cases by mutations in the STK11 gene.
methodsThe majority of causative DNA changes identified in patients with PJS are small mutations and, therefore, developing a method of their detection is a key aspect in the advancement of genetic diagnostics of PJS patients. We designed 13 pairs of primers, which amplify at the same temperature and enable examination of all coding exons of the STK11 gene by the HRM analysis.
resultsIn our group of 41 families with PJS small mutations of the STK11 gene were detected in 22 families (54%). In the remaining cases all of the coding exons were sequenced. However, this has not allowed to detect any additional mutations.
conclusionsThe developed methodology is a rapid and cost-effective screening tool for small mutations in PJS patients and makes it possible to detect all the STK11 gene sequence changes occurring in this group.
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