ArticleDigestive diseases and sciences2007
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.
Article in Digestive diseases and sciences, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 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
- Comprehensively Testing the Function of Missense Variation in thebioRxiv : the preprint server for biology · 2025Article
- Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.Familial cancer · 2024Article
- Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.Cancer treatment and research · 2024Review
- Changes of gut microbiota and short chain fatty acids in patients with Peutz-Jeghers syndrome.BMC microbiology · 2023Article
- High risk and early onset of cancer in Chinese patients with Peutz-Jeghers syndrome.Frontiers in oncology · 2022Article
- Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.Cancers · 2021Review
- 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
- Article
- Two novelOncology letters · 2018Article
- A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report.Familial cancer · 2017Article
- Duodenal cancer in a young patient with Peuts-Jeghers syndrome harboring an entire deletion of the STK11 gene.Clinical journal of gastroenterology · 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
- Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome.Experimental and therapeutic medicine · 2017Article
- Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan.Surgery today · 2016Review
- 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
- Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.BMJ case reports · 2015Article
- Functional Role of Histidine in the Conserved His-x-Asp Motif in the Catalytic Core of Protein Kinases.Scientific reports · 2015Article
- Hamartomatous polyposis syndromes.Hereditary cancer in clinical practice · 2013Article
Corrections and comments
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Authors and funding
15 authors at 11 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome (PJS), an autosomal-dominant disorder characterized by mucocutaneous pigmentation, hamartomatous polyps, and an increased risk of associated malignancies. In this study, we assessed the presence of pathogenic mutations in the LKB1/STK11 gene in 46 unrelated PJS families, and also carried genotype-phenotype correlation in regard of the development of cancer in 170 PJS patients belonging to these families. All LKB1/STK11 variants detected with single-strand conformational polymorphism were confirmed by direct sequencing, and those without LKB1/STK11 mutation were further submitted to Southern blot analysis for detection of deletions/rearrangements. Statistical analysis for genotype-phenotype correlation was performed. In 59% (27/46) of unrelated PJS cases, pathogenic mutations in the LKB1/STK11 gene, including 9 novel mutations, were identified. The new mutations were 2 splice site deletion-insertions, 2 missenses, 1 nonsense, and 4 abnormal splice sites. Genotype-phenotype analysis did not yield any significant differences between patients carrying mutations in LKB1/STK11 versus those without mutations, even with respect to primary biliary adenocarcinoma. This study presents the molecular characterization and cancer occurrence of a large cohort of PJS patients, increases the mutational spectrum of LKB1/STK11 allelic variants worldwide, and provides a new insight useful for clinical diagnosis and genetic counseling of PJS families.
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