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UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
  1. Helen Hanson1,
  2. Angela F Brady2,
  3. Gillian Crawford3,
  4. Rosalind A Eeles4,5,
  5. Sarah Gibson6,
  6. Mette Jorgensen7,
  7. Louise Izatt8,
  8. Aslam Sohaib9,
  9. Marc Tischkowitz10,
  10. D Gareth Evans11
  11. Consensus Group Members
    1. 1 St George"s Hospital NHS Foundation Trust, South West Thames Regional Genetic Services, London, UK
    2. 2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK
    3. 3 Clinical Genetics, University Hospital Southampton NHS Foundation Trust, Southampton, UK
    4. 4 Oncogenetics Team, The Institute of Cancer Research, Sutton, Surrey, UK
    5. 5 Clinical Oncology and Oncogenetics, Royal Marsden NHS Foundation Trust, London, London, UK
    6. 6 Peninsula Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK
    7. 7 Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
    8. 8 Clinical Genetics, Guy"s and St Thomas" NHS Foundation Trust, London, UK
    9. 9 Radiology, Royal Marsden Hospital NHS FoundationTrust, London, UK
    10. 10 Academic Department of Medical Genetics, University of Cambridge, Cambridge, UK
    11. 11 Genetic Medicine, Central Manchester University Hospitals NHS FoundationTrust, Manchester, UK
    1. Correspondence to Dr Helen Hanson, St George"s Hospital NHS Foundation Trust, South West Thames Regional Genetic Services, London SW17 0QT, UK; helen.hanson{at}stgeorges.nhs.uk

    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.

    • clinical genetics
    • paediatric oncology
    • genetics
    • guidelines
    • screening
    https://creativecommons.org/licenses/by/4.0/

    This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

    https://doi.org/10.1136/jmedgenet-2020-106876

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      Footnotes

      • Collaborators *Consensus Group Members Dr Muna Ahmed, Clinical Genetics, Great Ormond Street Hospital; Dr Paola Angelini, Paediatric Oncology, The Royal Marsden NHS Foundation Trust; Dr Angela Brady, Clinical Genetics, North West Thames Regional Genetics Service; Dr Paul Brennan, Northern Genetics Service, Newcastle-upon-Tyne; Dr Carole Brewer, Clinical Genetics, Exeter; Dr Jackie Cook, Clinical Genetics, Sheffield; Dr Gillian Crawford, Clinical Genetics, Southampton; Dr Rosemarie Davidson, Clinical Genetics, Glasgow; Dr Mark Davis Oncology/ Clinical Genetics, Cardiff; Dr Bianca de Souza, Clinical Genetics, Guys and St Thomas’ NHS Foundation Trust; Mrs Verity Easton, Patient representative, George Pantziarka TP53 Trust; Professor Ros Eeles, Oncology/Clinical Genetics, The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust; Professor Gareth Evans, Clinical Genetics, Manchester; Dr Ian Frayling, Pathology, Cardiff; Dr Angela George, Oncology/Clinical Genetics, Royal Marsden Hospital NHS Foundation Trust; Miss Sarah Gibson, Clinical Genetics, Exeter; Dr Andrew Gogbashian, Adult Radiology, Mount Vernon; Professor Vicky Goh, Cancer Imaging, King’s College London and Clinical Radiology, Guy’s and St Thomas’ NHS Foundation Trust; Professor Andrew Green, Clinical Genetics, Dublin; Dr Lynn Greenhalgh, Clinical Genetics, Liverpool; Mr Michael Farrell; Clinical Genetics, Mater Private Hospital, Dublin; Dr Dorothy Halliday, Clinical Genetics, Oxford; Dr Helen Hanson, Clinical Genetics, St Georges NHS Foundation Trust ; Dr Louise Izatt Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust; Dr Rosalyn Jewell, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust; Dr Robin Jones, Oncology/Sarcoma, Royal Marsden NHS Foundation Trust; Dr Mette Jorgensen, Paediatric Oncology, Great Ormond Street Hospital; Dr Claire Lloyd, Paediatric Radiology, Guys and St Thomas’ NHS Foundation Trust; Miss Baharak Mohammadi, Clinical Genetics; Dr Alex Murray, Clinical Genetics, Cardiff; Dr Kai Ren Ong, Genetics, Birmingham; Dr Erika Pace, Paediatric Radiology, Royal Marsden NHS Foundation Trust; Dr Pan Pantziarka, Patient representative, George Pantziarka TP53 Trust; Mrs Michelle Potter, Patient representative, George Pantziarka TP53 Trust; Miss Sarah Pugh, Clinical Genetics, Bristol; Dr Gillian Rea, Clinical Genetics, Belfast; Dr Aslam Sohaib, Adult Radiology, Royal Marsden NHS Foundation Trust; Ms Beverley Speight, Clinical Genetics, Cambridge; Dr Stavros Stivros, Paediatric Neuroradiology, Manchester; Dr David Swienton, Adult Radiology, Leicester; Professor Clare Turnbull, Clinical Genetics, Genomics England; Professor Leslie Walker, Psychology, Hull; Dr Richard Whitehouse, Adult Radiology, Manchester.

      • Contributors HH developed and administered the premeeting survey, collated and presented the results, organised and chaired the consensus meeting and drafted the manuscript. AFB, GC, SG and LI helped in the organisation of the meeting and acted as group facilitators on the day. RE, MJ and AS presented data at the consensus meeting and provided expert opinion. GE and MT reviewed and critically appraised the manuscript. All named authors and members of the Consensus Group contributed to the discussion at the meeting and reviewed and contributed to the final manuscript.

      • Funding HH is supported by the Cancer Research CRUK Catalyst Award, CanGene-CanVar (C61296/A27223).

      • Competing interests None declared.

      • Patient consent for publication Not required.

      • Provenance and peer review Not commissioned; externally peer reviewed.