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

The TP53 gene is known as the “guardian of the cell” due to its crucial role in preventing cancer cells developing. Individuals with a pathogenic variant (spelling change ) in the TP53 gene are at a very high lifetime risk of developing cancer throughout childhood and adulthood, most commonly cancers of the bone and soft tissue  (sarcomas)  and breast, brain and adrenocortical cancers.

To date, in the UK, other than for breast cancer no specific screening recommendations have existed to detect cancers at an early stage. A large consensus group meeting ,including a broad range of specialists and patients was convened in Summer 2018 by the UK Cancer Genetics Group. Hanson et al, report the recommendations from this meeting which include annual whole-body MRI and brain MRI from birth to this at -risk patient group. (By Dr. Helen Hanson, https://jmg.bmj.com/content/early/2020/06/22/jmedgenet-2020-106876 )

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