ArticleChinese journal of cancer research = Chung-kuo yen cheng yen chiu2013
A novel PTEN gene promoter mutation and untypical Cowden syndrome.
Article in Chinese journal of cancer research = Chung-kuo yen cheng yen chiu, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.Eye (London, England) · 2025Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Article
- Hints from a Female Patient with Breast Cancer Who Later Presented with Cowden Syndrome.Journal of breast cancer · 2020Article
- A PTEN translational isoform has PTEN-like activity.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2015Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
Cowden syndrome (CS), an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene. Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations. In the present study, we sequenced the exons and the promoter of PTEN gene, mutations and variations in the promoter and exons were identified, and a PTEN protein expression negative region was determined by immunohistochemistry (IHC). In conclusion, a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally, leading to the disorder of PTEN and untypical CS manifestations.
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