Evaluation of rapid whole-body magnetic resonance as screening strategy for early cancer detection in 57 Brazilian Li-Fraumeni syndrome patients.

1534 Background: Li-Fraumeni Syndrome (LFS) is a rare autosomal dominant syndrome associated with germline mutations in TP53 gene. Carriers have a high risk for developing multiple early onset cancers, most commonly breast cancer, sarcomas, brain and adrenocortical carcinomas. Screening strategies for early diagnosis in carriers constitute a major challenge due to the diverse spectrum and ages of onset of tumors. Rapid whole body MRI (RWB–MRI) has been proposed as a screening strategy. In Brazil, there is a high prevalence of a founder mutation (p.R337H TP53) present in 0.3% of the South/Southeastern Brazilian population. Due to genetic modifiers, tumors occur at a later age in p.R337H carriers. Methods: The aim of this study is to evaluate the efficacy of RWB–MRI as a screening strategy in p.R337H TP53 carriers and in classical LFS mutation carriers. A total of 84 RWB–MRI were performed in 57 TP53 germline mutation carriers (49 p.R337H TP53), including 27 patients who performed a second exam 12 months af...