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Rigshospitalet - a part of Copenhagen University Hospital
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Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

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INTRODUCTION: Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients.

METHODS: A review of the literature including existing guidelines from the years 1996 until 2017 was carried out. In total, 2078 scientific papers were identified through database searches on Cowden syndrome. Among these, 11 manuscripts were included based on scientific relevance and quality. Expert consensus was reached to define management guidelines.

RESULTS: The literature revealed a high risk of cancer in specific organs for patients diagnosed with Cowden Syndrome. Alternative management guidelines were proposed and discussed.

CONCLUSIONS: Here we propose a revised set of management guidelines for patients with Cowden syndrome in Denmark to address the increased risk of various cancer types.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume63
Issue number5
Pages (from-to)103873
ISSN1769-7212
DOIs
Publication statusPublished - May 2020

    Research areas

  • Denmark, Early Detection of Cancer/methods, Genetic Testing/methods, Hamartoma Syndrome, Multiple/diagnosis, Humans, Neoplasms, Second Primary/diagnosis, PTEN Phosphohydrolase/genetics, Practice Guidelines as Topic

ID: 61711751