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

Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans, Consensus Group Members, Muna Ahmed, Paola Angelini, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Mark Davis, Bianca de Souza, Verity Easton, Ian Frayling, Angela George, Andrew Gogbashian, Vicky Goh, Andrew Green, Lynn Greenhalgh, Michael Farrell, Dorothy Halliday, Rosalyn Jewell, Robin Jones, Claire Lloyd, Baharak Mohammadi, Alex Murray, Kai Ren Ong, Erika Pace, Pan Pantziarka, Michelle Potter, Sarah Pugh, Gillian Rea, Beverley Speight, Stavros Stivros, David Swienton, Clare Turnbull, Leslie Walker, Richard Whitehouse, Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans, Consensus Group Members, Muna Ahmed, Paola Angelini, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Mark Davis, Bianca de Souza, Verity Easton, Ian Frayling, Angela George, Andrew Gogbashian, Vicky Goh, Andrew Green, Lynn Greenhalgh, Michael Farrell, Dorothy Halliday, Rosalyn Jewell, Robin Jones, Claire Lloyd, Baharak Mohammadi, Alex Murray, Kai Ren Ong, Erika Pace, Pan Pantziarka, Michelle Potter, Sarah Pugh, Gillian Rea, Beverley Speight, Stavros Stivros, David Swienton, Clare Turnbull, Leslie Walker, Richard Whitehouse

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.

Keywords: clinical genetics; genetics; guidelines; paediatric oncology; screening.

Conflict of interest statement

Competing interests: None declared.

© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.

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