ReviewFamilial cancer2018
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.
Review in Familial cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 76 citations in OpenAlex.
- Peutz-Jeghers syndrome withoutWorld journal of gastroenterology · 2023Trial
- Review
- Familial pediatric Peutz-Jeghers syndrome with recurrent intussusception: case report and literature review.Frontiers in pediatrics · 2026Article
- Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.Familial cancer · 2025Article
- Article
- High-grade corded and hyalinized endometrioid carcinoma with high microsatellite instability and STK11 mutation: A case report and literature review.Oncology letters · 2025Article
- Natural surgical risks and age distribution in Chinese patients with Peutz-Jeghers syndrome: Real-world research based on a web survey.World journal of gastrointestinal surgery · 2025Article
- Article
- MalignantGynecologic oncology reports · 2024Article
- Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.Familial cancer · 2024Article
- Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.Heliyon · 2024Review
- Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Age-specific causes of upper gastrointestinal bleeding in children.World journal of gastroenterology · 2023Review
- Small Intestinal Polyp Burden in Pediatric Peutz-Jeghers Syndrome Assessed through Capsule Endoscopy: A Longitudinal Study.Children (Basel, Switzerland) · 2023Article
- Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.Biomedicines · 2023Review
- LKB1/STK11 Tumor Suppressor Reduces Angiogenesis by Directly Interacting with VEGFR2 in Tumorigenesis.Biomolecules & therapeutics · 2023Article
- Intestinal intussusception in a child with Peutz-Jeghers syndrome: case report.Annals of medicine and surgery (2012) · 2023Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.BMC gastroenterology · 2022Article
- Unexpected Widespread Bone Metastases from a BRAF K601N Mutated Follicular Thyroid Carcinoma within a Previously Resected Multinodular Goiter.Endocrine pathology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy. Truncating variants in STK11 are thought to predispose to a more severe phenotype. Phenotype severity is based on earlier onset of gastrointestinal pathology arising from the polyps, such as intussusception or earlier onset malignancy. Missense variants are generally considered less severe than truncating variants. There remain a large number of variants of undetermined significance. Studies have attempted to correlate the location of variants with impact on protein structure and overall severity of the PJS phenotype. The results from these cohort studies have consistently found a non-random distribution of variants. Nevertheless, a consensus on phenotype severity based on variant location is yet to be established. A centralised database that collates all known variants would facilitate the interpretation of these variants, best under the governance of an international disease-specific organisation (InSiGHT). In particular, it could help explore the significance of variants based on their type or location. Understanding the genotype-phenotype link between STK11 variants and PJS could allow more personalised care for PJS patients and their families via appropriate risk stratification and personalised and targeted 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.