Table 1

Clinical and molecular features of five patients harbouring TP53 p.Arg337His

Sample IDAge at diagnosis, sexSarcoma histologyOther tumoursFamily history of cancer
(relative, age)
XAF1:p.Glu134TerClinical criteria
GRY_726–30, MLMSNoGastric cancer (grandfather, 91–95)PresentNone
GRY_2226–30, FLMSNoBreast cancer (paternal aunt, 26–30); CNS tumour (paternal aunt, 31–35); gastric cancer (maternal grandfather, NA)PresentChompret (2015)
GRY_2331–35, MLMSNoProstate cancer and sarcoma (father, 56–60, 61–65); laryngeal neoplasia (maternal grandmother, 71–75 smoker); glioblastoma (paternal cousin, 31–35); Hodgkin lymphoma (paternal cousin, 21–25); colorectal cancer (paternal uncle, 46–50 years); leukaemia (paternal uncle, 0–5); colorectal cancer (paternal grandfather, 55–60).AbsentChompret (2015)
GRY_32731–35, FLPSNoBreast cancer and thyroid carcinoma (mother, 40s); lung cancer (maternal grandmother, 66–70); breast cancer (maternal great-aunt, 61–65); colorectal cancer (maternal great-aunt, 56–50); uterine cancer (maternal great-aunt, 46–50 years); CNS tumour (maternal cousin, 0–5).PresentChompret (2015)
GRY_36921–25, MOSNoLung cancer (maternal aunt, NA).PresentNone
  • CNS, central nervous system; F, female; LMS, leiomyosarcoma; LPS, liposarcoma; M, male; NA, not available; OS, osteosarcoma.