ArticleHereditary cancer in clinical practice2013
Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.
Article in Hereditary cancer in clinical practice, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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
- Case Report: Bilateral tonic-clonic seizures as initial presentation of Lhermitte-Duclos Disease and Cowden Syndrome.Frontiers in oncology · 2026Article
- Atypical Manifestations of Cowden Syndrome in Pediatric Patients.Diagnostics (Basel, Switzerland) · 2025Article
- The Epithelial to Mesenchymal Transition in Colorectal Cancer Progression: The Emerging Role of Succinate Dehydrogenase Alterations and Succinate Accumulation.Biomedicines · 2023Review
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- New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.Molecular biology reports · 2020Article
- Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges.Oncology letters · 2019Review
- Characterisation of mesenchymal colon tumour-derived cells in tumourspheres as a model for colorectal cancer progression.International journal of oncology · 2018Article
- Novel MSH2 splice-site mutation in a young patient with Lynch syndrome.Molecular medicine reports · 2018Article
- SameClinical medicine insights. Case reports · 2018Article
- Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.International journal of molecular sciences · 2017Article
- Common risk variants for colorectal cancer: an evaluation of associations with age at cancer onset.Scientific reports · 2017Article
- 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
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9 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer.
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