AI Article Synopsis
- - Cowden syndrome, caused by mutations in the PTEN gene, significantly raises the risk of several cancers including breast, thyroid, and colorectal cancers, making regular surveillance essential for affected individuals.
- - The study involved a thorough review of literature from 1996 to 2017, identifying 2078 papers but narrowing to 11 that provided relevant and high-quality information to create management guidelines.
- - The findings highlighted the specific cancer risks associated with Cowden syndrome and led to the proposal of updated management guidelines tailored for patients in Denmark.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.ejmg.2020.103873 | DOI Listing |
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