Repository logo
 

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.

Published version
Peer-reviewed

Change log

Authors

Brady, Angela F 
Crawford, Gillian 
Eeles, Rosalind A 
Gibson, Sarah 

Abstract

Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum of cancers. Due to the broad tumour spectrum, surveillance for this patient group has been limited. To date, the only recommendation in the UK has been for annual breast MRI in women; however, more recently, a more intensive surveillance protocol including whole-body MRI (WB-MRI) has been recommended by International Expert Groups. To address the gap in surveillance for this patient group in the UK, the UK Cancer Genetics Group facilitated a 1-day consensus meeting to discuss a protocol for the UK. Using a preworkshop survey followed by structured discussion on the day, we achieved consensus for a UK surveillance protocol for TP53 carriers to be adopted by UK Clinical Genetics services. The key recommendations are for annual WB-MRI and dedicated brain MRI from birth, annual breast MRI from 20 years in women and three-four monthly abdominal ultrasound in children along with review in a dedicated clinic.

Description

Funder: UK Cancer Genetics Group


Funder: The George Pantziarka TP53 Trust

Keywords

clinical genetics, genetics, guidelines, paediatric oncology, screening

Journal Title

J Med Genet

Conference Name

Journal ISSN

0022-2593
1468-6244

Volume Title

Publisher

BMJ
Sponsorship
Cancer Research CRUK Catalyst Award, CanGene-CanVar (C61296/A27223)