Table 1

Criteria used for TP53 germline mutation testing

  • Classical Li–Fraumeni syndrome (LFS) criteria

  • Li et al3

  • A proband with sarcoma diagnosed under the age of 45 years

  • AND

  • A first degree relative with any cancer under 45 years

  • AND

Another first or second degree relative with either cancer under 45 years or a sarcoma at any age
  • Li–Fraumeni-like syndrome (LFL) criteria

  • Birch et al4

  • A proband with any childhood cancer or sarcoma, brain tumour or adrenal cortical tumour under the age of 45 years

  • AND

  • A first or second degree relative with a typical LFS cancer at any age

  • AND

A first or second degree relative in the same lineage with any cancer under 60 years
  • LFL criteria

  • Eeles5

Two different tumours that are part of extended LFS in first or second degree relatives at any age (sarcoma, breast cancer, brain tumour, leukaemia, adrenal cortical tumour, melanoma, prostate cancer and pancreatic cancer)
  • LFS Chompret criteria

  • Chompret et al6

  • A proband affected by a narrow spectrum cancer (sarcomas, brain tumours, breast cancer and adrenal cortical carcinoma) before 36 years

  • and at least one first or second degree relative affected by a narrow spectrum tumour (other then breast cancer if the proband is affected by breast cancer) before 46 years or multiple primary tumours

  • OR

  • A proband with multiple primary tumours two of which belong to the narrow spectrum and the first of which occurred before 36 years

  • OR

A proband with adrenal cortical carcinoma whatever the age of onset and family history
  • LFS Chompret criteria revised

  • Tinat et al7

  • A proband with a tumour belonging to the LFS tumour spectrum (soft tissue sarcoma, osteosarcoma, brain tumours, pre-menopausal breast cancer, adrenal cortical carcinoma, leukaemia, lung bronchoalveolar cancer) before 46 years

  • and at least one first or second degree relative with an LFS tumour (except breast cancer if the proband is affected by breast cancer) before 56 years or multiple primary tumours

  • OR

  • A proband with multiple primary tumours (except multiple breast tumours), two of which belong to the LFS tumour spectrum and the first of which occurred before 46 years

  • OR

A proband with adrenal cortical carcinoma or choroid plexus tumour, irrespective of the family history