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- W1972509119 abstract "Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions.Here we report on a 58-year-old woman with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign meningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X).This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors." @default.
- W1972509119 created "2016-06-24" @default.
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- W1972509119 date "2011-03-15" @default.
- W1972509119 modified "2023-10-18" @default.
- W1972509119 title "Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTENgene mutation in a patient with Cowden syndrome: Case report" @default.
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- W1972509119 doi "https://doi.org/10.1186/1471-2350-12-38" @default.
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