Parent decision-making around the genetic testing of children for germline TP53 mutations
Melissa A. Alderfer, Kristin Zelley, Robert B. Lindell, Ana Novokmet, Phuong L. Mai, Judy E. Garber, Deepika Nathan, Sarah Scollon, Nicolette M. Chun, Andrea F. Patenaude, James M. Ford, Sharon E. Plon, Joshua D. Schiffman, Lisa R. Diller, Sharon A. Savage, David Malkin, Carol A. Ford and Kim E. Nichols
Article first published online: 15 SEP 2014 | DOI: 10.1002/cncr.29027
Li-Fraumeni Syndrome (LFS) is a rare genetic cancer predisposition syndrome caused by germline TP53 mutations in which up to 20% of mutation carriers develop cancer during childhood. Although empirical evidence regarding benefits and risks of TP53 testing during childhood are lacking, most parents in our study decided easily in favor of testing and perceived a range of advantages that outweighed risks.