Whole-body MRI plus blood DNA surveillance for people with Li-Fraumeni syndrome
People with an inherited TP53 mutation face a near-certain lifetime cancer risk. Yearly whole-body MRI catches cancers early; adding blood DNA tests may catch them earlier still.
The Toronto Protocol (whole-body MRI, brain MRI, ultrasound) improved survival in Li-Fraumeni syndrome. Propose a global registry with standardised imaging and prospective cell-free DNA and fragmentomics testing, to determine whether blood adds lead time over imaging.
- Inherited risk is mostly unidentified · Most people who carry a high-risk cancer gene do not know it until they or a relative gets cancer.
- Most lethal cancers are found late · Screening exists for only a few cancers. Pancreatic, ovarian, liver, oesophageal and most lung cancers are found when cure is unlikely.
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