Table 1 Frequencies of tumours in TP53 mutations carriers
Tumour typeFrequency in index cases (n = 85)* (%)Frequency in carriers (n = 115)† (%)
Pre-menopausal breast cancer4039
Soft tissue sarcoma2929
Osteosarcoma2219
Brain tumour1414
Adrenocortical tumour1210
Lung cancer68
Leukaemia, lymphoma55
Renal cancer54
Colorectal cancer44
Gonadal germ cell tumour43
  • *After the molecular analysis, we discovered that eight index cases, initially considered as originating from eight independent families, corresponded to four unrelated families. Furthermore, we missed accurate clinical information for one family harbouring a TP53 mutation and we have not included this family to describe the tumour spectrum presented in this table. This explains why the number of index cases presented here is 85 and not 82, as presented in the results. †Frequency of tumours detected in index cases and in relatives carrying the TP53 familial mutation