UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants. Issue 2 (22nd June 2020)

• Record Type: Journal Article
• Authors: Hanson, Helen; Brady, Angela F; Crawford, Gillian; Eeles, Rosalind A; Gibson, Sarah; Jorgensen, Mette; Izatt, Louise; Sohaib, Aslam; Tischkowitz, Marc; Evans, D Gareth
• Other Names: author non-byline.; Ahmed Muna author non-byline.; Angelini Paola author non-byline.; Brennan Paul author non-byline.; Brewer Carole author non-byline.; Cook Jackie author non-byline.; Davidson Rosemarie author non-byline.; Davis Mark author non-byline.; Souza Bianca de author non-byline.; Easton Verity author non-byline.; Frayling Ian author non-byline.; George Angela author non-byline.; Gogbashian Andrew author non-byline.; Goh Vicky author non-byline.; Green Andrew author non-byline.; Greenhalgh Lynn author non-byline.; Farrell Michael author non-byline.; Halliday Dorothy author non-byline.; Jewell Rosalyn author non-byline.; Jones Robin author non-byline.; Lloyd Claire author non-byline.; Mohammadi Baharak author non-byline.; Murray Alex author non-byline.; Ong Kai Ren author non-byline.; Pace Erika author non-byline.; Pantziarka Pan author non-byline.; Potter Michelle author non-byline.; Pugh Sarah author non-byline.; Rea Gillian author non-byline.; Speight Beverley author non-byline.; Stivros Stavros author non-byline.; Swienton David author non-byline.; Turnbull Clare author non-byline.; Walker Leslie author non-byline.; Whitehouse Richard author non-byline.;
• Is Part Of: Journal of medical genetics. Volume 58:Issue 2(2021)
• Page Start: 135
• Page End: 139
• Publication Date: 2020-06-22
• Subjects: clinical genetics -- paediatric oncology -- genetics -- guidelines -- screening; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2020-106876
• Languages: English
• ISSNs: 1468-6244

Abstract

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.