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Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.

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 Genet

journal_title

European journal of medical genetics

authors

Smerdel MP,Skytte AB,Jelsig AM,Ebbehøj E,Stochholm K

doi

10.1016/j.ejmg.2020.103873

subject

Has Abstract

pub_date

2020-05-01 00:00:00

pages

103873

issue

5

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(19)30133-8

journal_volume

63

pub_type

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