Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

[en] 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. © 2020, The Author(s).

Disciplines :

Genetics & genetic processes

Author, co-author :

Tischkowitz, M.; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom

Colas, C.; Department of Genetics, Institut Curie, Paris Sciences et Lettres Research University, Paris, France

Pouwels, S.; Haaglanden Medical Center, The Hague, Netherlands

Hoogerbrugge, N.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

Bisseling, T.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, Netherlands

Bubien, V.; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France

Caux, F.; Dermatology, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Bobigny, France

Chabbert-Buffet, N.; Department of Obstetrics and Gynaecology, Tenon University Hospital, Assistance Publique des Hôpitaux de Paris, Sorbonne University, Paris, France

Colas, C.; Department of Genetics, Institut Curie, Paris Sciences et Lettres Research University, Paris, France

Da Mota Gomes, S.; Patient Representative, Paris, France

More authors (55 more)

Language :

English

Title :

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Publication date :

2020

Journal title :

European Journal of Human Genetics

ISSN :

1018-4813

eISSN :

1476-5438

Publisher :

Springer Nature

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 04 September 2020

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