ArticleBMC medical genetics2012
Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome".
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.Asian Pacific journal of cancer prevention : APJCP · 2024Pooled it
- Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.Biomedicines · 2026Article
- The Epithelial to Mesenchymal Transition in Colorectal Cancer Progression: The Emerging Role of Succinate Dehydrogenase Alterations and Succinate Accumulation.Biomedicines · 2023Review
- Review
- Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.International journal of molecular sciences · 2020Article
- Nitrodi thermal water downregulates protein S‑nitrosylation in RKO cells.International journal of molecular medicine · 2020Article
- Sporadic pediatric severe familial adenomatous polyposis: A case report.Molecular and clinical oncology · 2020Article
- New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.Molecular biology reports · 2020Article
- Lithium chloride increases sensitivity to photon irradiation treatment in primary mesenchymal colon cancer cells.Molecular medicine reports · 2020Article
- Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges.Oncology letters · 2019Review
- Serum Expression ofDisease markers · 2019Article
- Characterisation of mesenchymal colon tumour-derived cells in tumourspheres as a model for colorectal cancer progression.International journal of oncology · 2018Article
- Novel Implications in Molecular Diagnosis of Lynch Syndrome.Gastroenterology research and practice · 2017Review
- Genetics, diagnosis and management of colorectal cancer (Review).Oncology reports · 2015Review
- Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature.Journal of medical case reports · 2015Review
- Lithium chloride induces mesenchymal‑to‑epithelial reverting transition in primary colon cancer cell cultures.International journal of oncology · 2015Article
- Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis.World journal of gastroenterology · 2013Article
- Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.Hereditary cancer in clinical practice · 2013Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe "PTEN hamartoma tumor syndrome" (PHTS) includes a group of syndromes caused by germline mutations within the tumor suppressor gene "phosphatase and tensin homolog deleted on chromosome ten" (PTEN), characterized by multiple polyps in the gastrointestinal tract and by a highly increased risk of developing malignant tumours in many tissues. The current work clarifies the molecular basis of PHTS in three unrelated Italian patients, and sheds light on molecular pathway disregulation constitutively associated to PTEN alteration.
methodsWe performed a combination of RT-PCR, PCR, sequencing of the amplified fragments, Real Time PCR and western blot techniques.
resultsOur data provide the first evidence of β-catenin accumulation in blood cells of patients with hereditary cancer syndrome caused by germ-line PTEN alteration. In addition, for the first time we show, in all PHTS patients analysed, alterations in the expression of TNFα, its receptors and IL-10. Importantly, the isoform of TNFRI that lacks the DEATH domain (TNFRSF1β) was found to be overexpressed.
conclusionIn light of our findings, we suggest that the PTEN pathway disregulation could determine, in non-neoplastic cells of PHTS patients, cell survival and pro-inflammatory stimulation, mediated by the expression of molecules such as β-catenin, TNFα and TNFα receptors, which could predispose these patients to the development of multiple cancers.
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