Li-Fraumeni syndrome

• Autosomal Dominant
  • p53 mutation on chromosome 17p
• Increased risk pre-menopausal breast cancer
  • Breast Ca Risk 85% by age 60
  • Predominantly HER2 +ve tumours
• Also
  • Colorectal cancer
  • Young onset Sarcoma
  • Brain tumours (Gliomas)
  • Adrenocortical Carcinoma
  • Leukaemia
  • Lymphoma
  • Gastric adenocarcinoma
  • Phyllodes tumour
• Screen
  • Breast
    • Annual MRI from age 20
    • Consider risk reducing mastectomy
  • Colon
    • Colonoscopy 2-5 years from age 20
  • Gastric
    • OGD every 2-5 years from age 25
  • Sarcoma/other
    • Annual whole body MRI
  • Pituitary
    • Annual brain MRI
• Diagnosis Criteria (All 3 required):
  • Sarcoma diagnosed < 45 years
  • 1° Relative with any Ca < 45 years
  • 1° or 2° Relative with any Ca < 45 years or a sarcoma at any age
• Avoid radiotherapy – higher risk of developing secondary malignancies in radiation fields
  • Thus, recommend Mastectomy rather than WLE + Radiotherapy