This is a summary of the recommended screening protocol for people with Li Fraumeni Syndrome in the UK. Full details are available from the UK Cancer Genetics Group paper at the Journal of Medical Genetics. These recommendations were agreed in July 2018, but sadly the funding to roll this out nationally has yet to be agreed by the NHS – we are continuing to campaign to get this level of screening for all who will benefit from it.
|Abdominal ultrasound 3-4 monthly, from birth to 18 years
Biochemistry (17 OH-progesterone, total testosterone, DHEAS, androstenedione) should only be performed where there is an unsatisfactory ultrasound
|Annual dedicated MRI from age 20-70
Consider risk reducing mastectomy from age 20
|Annual dedicated brain MRI from birth (first MRI with contrast)
|Annual whole-body MRI from birth
|Colonoscopy only indicated when family history of colorectal cancer or polyposis.
Consider other, possibly co-inherited, causes as appropriate.
|Recommend Helicobacter pylori testing and eradication if required.
Endoscopy not indicated due to lack of evidence
|Annual dermatology review from age 18 (GP or Dermatology)
|Full physical examination 3-4 monthly in children (including blood pressure, anthropometric measurements, signs of virilisation and neurological exam)
Routine physical examination not recommended in adults – advise detailed discussion of “red flag” symptoms and low threshold for fast track referral of persistent or unusual symptoms
|Recommend detailed discussion of “red flag” symptoms in both children and adults and provide information on relevant resources