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

Research output: Contribution to journalArticle

UKCGG Consensus Group

Original languageEnglish
Pages (from-to)1-5
JournalJ Med Genet
Publication statusE-pub ahead of print - 22 Jun 2020

King's Authors


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.

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