Devoted to a world without inherited cancer

Genetic Testing

Key Points for Individuals with a Variant of Uncertain Significance (VUS) in the TP53 Gene

Genetic testing is not always a one and done process: the classification of a variant may change over time, technologies improve and better testing may become available; and guidelines and recommendations for testing and management change as we learn new information. This case in “Genetic Testing Challenges in Oncology" highlights some of these issues. The

Novel tool more accurately predicts risk of Li-Fraumeni Syndrome

Our friends at MD Anderson have published the results from their prospective study validating a new, user-friendly method in determining if genetic testing should be pursued, referred to as LFSPRO.  Developed to assist genetic counselors, LFSPRO is a statistical tool that analyzes a patient's full family history to estimate the likelihood of a TP53 mutation.

Parent decision-making around the genetic testing of children for germline TP53 mutations

Despite limited empirical evidence on the benefits and risks of TP53 testing in childhood, most parents in this study readily chose testing and identified multiple benefits. The authors conclude that, within the context of a clinical Li-Fraumeni syndrome diagnosis, parents should continue to be offered TP53 testing for their children, receive clear counseling on potential

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