ReviewEuropean journal of human genetics : EJHG2008
PTEN hamartoma tumor syndromes.
Review in European journal of human genetics : EJHG, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 2 of them syntheses that pooled it.
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
99 citing papers in PubMed, 2 syntheses or guidelines pooled it, 322 citations in OpenAlex.
- A systematic review of Bannayan - Riley - Ruvalcaba syndrome.Scientific reports · 2024Pooled it
- Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.Journal of neurodevelopmental disorders · 2022Pooled it
- Clinical characteristics and imaging analysis of Proteus syndrome: a case description.Quantitative imaging in medicine and surgery · 2026Article
- PTEN restrains SHH medulloblastoma growth through cell autonomous and nonautonomous mechanisms.eLife · 2026Article
- Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.Eye (London, England) · 2025Article
- Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis.Head & neck · 2025Article
- MYCN-amplified spinal ependymomas: a rare aggressive subtype. Illustrative cases.Journal of neurosurgery. Case lessons · 2025Article
- [Thyroid cancer in a child with Cowden syndrome].Problemy endokrinologii · 2024Article
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Redox Regulation of PTEN by Reactive Oxygen Species: Its Role in Physiological Processes.Antioxidants (Basel, Switzerland) · 2024Review
- Survival Trends in Pediatric Differentiated Thyroid Cancer: A Middle Eastern Perspective.Life (Basel, Switzerland) · 2024Article
- Comprehensive genomic evaluation of advanced and recurrent breast cancer patients for tailored precision treatments.BMC cancer · 2024Article
- Mucin-producing urothelial-type adenocarcinoma of the prostate with sarcomatoid features and novel molecular phenotype.IJU case reports · 2024Article
- Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.BMC medical genomics · 2023Review
- Synchronous and metachronous thyroid cancer, breast cancer, and melanoma in a premenopausal patient with Cowden syndrome.Radiology case reports · 2023Article
- EUS diagnosis of hepatic angiomyolipoma.VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy · 2023Article
- A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations.Annals of dermatology · 2023Article
- Self-delivering RNAi compounds as therapeutic agents in the central nervous system to enhance axonal regeneration after injury.iScience · 2022Article
- Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.Journal of pediatric neuropsychology · 2022Article
- Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin.Biological psychiatry global open science · 2022Review
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome 10q22-23 and negatively regulates the prosurvival PI3K/Akt/mTOR pathway through its lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. Clinical management of patients with PHTS, particularly those with CS, should include early and frequent screening, surveillance, and preventive care for associated malignancies. Concomitant with improved understanding of the biology of PTEN and the PI3K/Akt/mTOR pathway, inhibitors of this pathway are being developed as anticancer agents. These medications could have applications for patients with PHTS, for whom no medical options currently exist.
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What OpenQuestion holds
Registered trials
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.