Angela Mastronuzzi: Cancer risk in carriers of TP53 germline variants
Angela Mastronuzzi, Pediatric Hematologist-oncologist and the Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital, shared an article by Lucas John Müntnich, et al. on LinkedIn:
“Cancer risk in carriers of TP53 germline variants grouped into different functional categories” published with JNCI Cancer Spectrum by Oxford University Press OUP Academic.
“Li-Fraumeni syndrome is a cancer predisposition syndrome caused by pathogenic TP53 germline variants and associated with a high lifelong cancer risk. We analysed the German LFS registry that contains data on 304 individuals.
The described classification provides a guide but should not be taken as an absolute prediction based on functional information and should be useful to clinicians dealing with LFS patients. Similar approaches could be applied to other cancer predisposition syndromes. These findings can be used to risk-stratify patients and inform care.””
Cancer risk in carriers of TP53 germline variants grouped into different functional categories.
Authors: Lucas John Müntnich, et al.
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