Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Authors
Colas, Chrystelle
Pouwels, Sjaak
Hoogerbrugge, Nicoline
Bisseling, Tanya
Bubien, Virginie
Caux, Frederic
Chabbert-Buffet, Nathalie
Da Mota Gomes, Sophie
Gotthardt, Martin
Kets, Marleen
Lachlan, Katherine L.
Links, Thera P.
Longy, Michel
Mann, Ritse
Kool, Leo Schultze
Semple, Robert K.
Stock, Ian
Vos, Janet
Ligtenberg, Marjolijn
Oostenbrink, Rianne
Sijmons, Rolf
Evans, Gareth
Woodward, Emma
Maher, Eamonn
Ferner, Rosalie E.
Aretz, Stefan
Spier, Isabel
Steinke-Lange, Verena
Holinski-Feder, Elke
Schröck, Evelin
Frebourg, Thierry
Houdayer, Claude
Wolkenstein, Pierre
Bours, Vincent
Legius, Eric
Poppe, Bruce
Claes, Kathleen
de Putter, Robin
Guillermo, Ignacio Blanco
Capella, Gabriel
Vidal, Joan Brunet
Lázaro, Conxi
Balmaña, Judith
Hernandez, Hector Salvador
Oliveira, Carla
Teixeira, Manuel
Bajalica-Lagercrantz, Svetlana
Tham, Emma
Lubinski, Jan
Ertmanska, Karolina
Melegh, Bela
Krajc, Mateja
Blatnik, Ana
Peltonen, Sirkku
Hietala, Marja
Publication Date
2020-06-12Journal Title
European Journal of Human Genetics
ISSN
1018-4813
Publisher
Springer International Publishing
Volume
28
Issue
10
Pages
1387-1393
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Colas, C., Pouwels, S., Hoogerbrugge, N., , Bisseling, T., Bubien, V., Caux, F., et al. (2020). Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. European Journal of Human Genetics, 28 (10), 1387-1393. https://doi.org/10.1038/s41431-020-0651-7
Abstract
Abstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
Keywords
Article, /692/700/459/1748, /692/699/67/68, article
Sponsorship
Cancer Research UK (CRUK) (C61296/A27223)
Identifiers
s41431-020-0651-7, 651
External DOI: https://doi.org/10.1038/s41431-020-0651-7
This record's URL: https://www.repository.cam.ac.uk/handle/1810/310616
Rights
Licence:
https://creativecommons.org/licenses/by/4.0/