ArticleFamilial cancer2016
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.
Article in Familial cancer, 2016. 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.
- Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2020Pooled 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
- Progress report: Peutz-Jeghers syndrome.Familial cancer · 2024Review
- Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.Familial cancer · 2024Article
- Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022Review
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.Familial cancer · 2021Article
- 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
- Two novelOncology letters · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterised by gastrointestinal polyposis and mucocutaneous pigmentation. Mutations in STK11, a serine-threonine protein kinase, have been associated with PJS in up to 100 % of published series. The hypothesis that a further genetic locus for PJS exists is controversial. No mutations in any other genes have been described in association with PJS. To date, no instances of somatic mosaicism for STK11 have been described. DNA extracted from peripheral lymphocytes and buccal cells was screened by sequence analysis for mutations in STK11. Dosage analysis was undertaken by multiplex ligation-dependent probe amplification (MLPA). Four patients have been shown to have mosaicism in STK11: two had mosaic deletions of specific exons (2-3 and 3-10) of the STK11 gene; one had a mosaic nonsense mutation in exon 5; and one had a mosaic frameshift mutation in exon 8. This report details the first four reported cases of somatic mosaicism for STK11 associated with PJS. This shows that techniques in addition to direct sequencing such as MLPA must be used to assess for large scale genomic deletions in patients meeting clinical diagnostic criteria for PJS. This also adds further weight to the hypothesis of a single genetic locus for PJS.
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