ArticleFamilial cancer2019
Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.Familial cancer · 2025Article
- 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
- Cancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center.Clinics in colon and rectal surgery · 2023Review
- Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.Familial cancer · 2023Article
- 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
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.