A study presented at ASCO 2021 showed that almost half of the cases of mutations in the TP53 gene are wrongly attributed to Li-Fraumeni syndrome, a rare inherited disease of cancer predisposition, proportionally more common in Brazil than in the rest of the world. In most cases, the disease is not inherited from the parents but results from a type of genetic defect during embryonic development (mosaicism) or from a somatic mutation related to clonal hematopoiesis of undetermined potential (CHIP).
“The result of this study has important implications,” says Bernardo Garicochea, oncologist and hematologist at the Centro Paulista de Oncologia (CPO), director of Oncogenetics at the OC Precision Medicine laboratory, of the Oncoclínicas Group, which follows nearly 400 families with the syndrome. “Distinguishing these categories is essential for prevention and early detection of tumors in patients and their relatives, since the probability of children with the syndrome having inherited the genetic mutation from their parents is high.”
Go to our website and read the full article with all the details of this study, as well as other materials related to the ASCO 2021 congress.