Abstract
AbstractHereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has allowed the identification of new syndromes.. The diagnosis entails surveillance from an early age, but universal guideline on how to manage and surveille these new syndromes are lacking. This paper represents a condensed version of the recent guideline (2020) from a working group appointed by the Danish Society of Medical Genetics and the Danish Society of Surgery on recommendations for the surveillance of patients with hereditary polyposis syndromes, including rare polyposis syndromes.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Oncology
Reference49 articles.
1. Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219–20. https://doi.org/10.1097/00005176-200408000-00027.
2. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223–62; quiz 63. https://doi.org/10.1038/ajg.2014.435.
3. Brosens LA, van Hattem A, Hylind LM, Iacobuzio-Donahue C, Romans KE, Axilbund J, et al. Risk of colorectal cancer in juvenile polyposis. Gut. 2007;56(7):965–7. https://doi.org/10.1136/gut.2006.116913.
4. Buchanan DD, Stewart JR, Clendenning M, Rosty C, Mahmood K, Pope BJ, et al. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med. 2018;20(8):890–5. https://doi.org/10.1038/gim.2017.185.
5. Nielsen M, Infante E, Brand R. MUTYH polyposis. 2012 Oct 4 [updated 2019 Oct 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK107219/.
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