Relative frequency and morphology of cancers in carriers of germline TP53 mutations.

摘要: The spectrum and frequency of cancers associated with germline TP53 mutations are uncertain. To address this issue a cohort individuals from 28 families Li-Fraumeni syndrome, segregating was established. Predicted were estimated by applying age, morphology, site sex-specific UK cancer statistics to person-years at risk. Observed predicted compared two-sided P-values calculated. Cancer types occurring excess showing <0.02, designated strongly mutations. These removed the data second round analyses performed. <0.02 0.02-0.05 in considered moderately weakly respectively. Strongly were: breast carcinoma, soft tissue sarcomas, osteosarcoma, brain tumours, adrenocortical Wilms' tumour phyllodes tumour. Carcinoma pancreas associated. Leukaemia neuroblastoma Other common carcinomas including lung, colon, bladder, prostate, cervix ovary did not occur excess. Although carcinoma sarcomas numerically most frequent, greatest increases relative general population rates We conclude that do simply increase There tissue-specific effects.