High frequency of de novo mutations in Li–Fraumeni syndrome

Abstract excerpt

BACKGROUND: Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely unknown; few unequivocal de novo mutations have been reported. METHODS AND RESULTS: Of 341 patients with early onset cancer sent for clinical testing to a national reference laboratory, 75 patients had TP53 germline...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer-related Molecular Pathways
• Share to HIV/AIDS drug development and treatment
• Share to HIV Research and Treatment