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.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Smerdel MP,Skytte AB,Jelsig AM,Ebbehøj E,Stochholm Kdoi
10.1016/j.ejmg.2020.103873subject
Has Abstractpub_date
2020-05-01 00:00:00pages
103873issue
5eissn
1769-7212issn
1878-0849pii
S1769-7212(19)30133-8journal_volume
63pub_type
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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