Article
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Cancer research - 1 Sept 2020
Powers Jacquelyn, Pinto Emilia M, Barnoud Thibaut, Leung Jessica C, Martynyuk Tetyana, Kossenkov Andrew V, Philips Aaron H, Desai Heena, Hausler Ryan, Kelly Gregory, Le Anh N, Li Marilyn M, MacFarland Suzanne P, Pyle Louise C, Zelley Kristin, Nathanson Katherine L, Domchek Susan M, Slavin Thomas P, Weitzel Jeffrey N, Stopfer Jill E, Garber Judy E, Joseph Vijai, Offit Kenneth, Dolinsky Jill S, Gutierrez Stephanie, McGoldrick Kelly, Couch Fergus J, Levin Brooke, Edelman Morris C, Levy Carolyn Fein, Spunt Sheri L, Kriwacki Richard W, Zambetti Gerard P, Ribeiro Raul C, Murphy Maureen E, Maxwell Kara N
Abstract excerpt
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li-Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-onset LFS-spectrum cancers. Twenty additional c.1000G>C probands and one c.1000G>A proband were identified, and available tumors showed biallelic somatic inactivation of TP53. The majority of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.