Table 1

Agreed surveillance recommendations for TP53 carriers

TumourScreening recommendation
ACCAbdominal USS 3–4 monthly birth:18 years
Biochemistry (17 OH-progesterone, total testosterone, DHEAS, androstenedione) should only be performed where there is an unsatisfactory USS.
Breast cancer
(women only)
Annual dedicated MRI from age 20–70 years
Consider risk-reducing mastectomy from age 20 years
Brain tumourAnnual dedicated brain MRI from birth (first MRI with contrast)*
SarcomaAnnual WB-MRI† from birth*
HaematologicalRoutine FBC are not indicated due to lack of evidence that these detect haematological malignancy at an early stage.
ColonColonoscopy only indicated when family history of colorectal cancer or polyposis‡; consider investigation for, possibly coinherited, causes if strong family history of colorectal cancer or polyposis
The presence of microcytic anaemia should prompt investigation for a gastrointestinal tract malignancy (routine FBC not advised).
GastricRecommend Helicobacter pylori testing and eradication if required
Endoscopy not indicated due to lack of evidence
SkinAnnual dermatology review from 18 years (general practitioner or dermatology)
General advice on use of high protection factor sunscreen and covering up in sun
Physical examinationFull 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
OtherRecommend detailed discussion of red flag symptoms in both children and adults and provide information on relevant resources.
Discuss importance of making positive lifestyle choices (eg, not smoking, eating a healthy diet, limiting alcohol consumption, sun protection, keeping physically active and providing appropriate resources).
  • Notes: (1) Currently on most scanners, arms are not covered adequately, and these should be evaluated clinically; (2) patients to be recalled for detailed imaging to evaluate uncertain lesions; (3) units wanting to do WB-MRI have to opt in (ie, self-certify quality for WB-MRI); (4) a minimum number of scans per year in a unit have not been specified; (5) optional sequences can be performed at the discretion of the unit; (5) radiology should be informed of any current clinical symptoms to inform interpretation of scan.

  • *Children weighing less than 20 kg need sedation, examination without anaesthetic may be possible from the age of 5 years with help from a dedicated play specialist. Feed and wrap approach may also be possible in the first year.

  • †Recommended core minimum sequence for WB-MRI (adults): T1, T2 fat sat/STIR or diffusion and non-fat sat T2; images can be acquired in axial or coronal planes or mixture; slice thickness (including gap) not greater than 10 mm; coverage vertex to feet; optional sequences at the discretion of the unit. Radiology should be informed of any current clinical symptoms to inform interpretation of scan.

  • ‡For individuals with a family history of colorectal cancer, we would suggest reference to the recently published British Society of Gastroenterology/Association of Coloproctologists of Great Britain and Ireland/United Kingdom Cancer Genetics Group guidelines for hereditary colorectal cancer.21

  • FBC, full blood count.