Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

• Published in: JNCI : Journal of the National Cancer Institute Vol. 110; no. 8; pp. 863 - 870
• Main Authors: Rana, Huma Q, Gelman, Rebecca, LaDuca, Holly, McFarland, Rachel, Dalton, Emily, Thompson, Jennifer, Speare, Virginia, Dolinsky, Jill S, Chao, Elizabeth C, Garber, Judy E
• Format: Journal Article
• Language: English
• Published: United States 01.08.2018
• Subjects: Adolescent; Adult; Female; Gene Frequency; Genetic Carrier Screening - methods; Genetic Predisposition to Disease; Genetic Testing - methods; Germ-Line Mutation; Heterozygote; High-Throughput Screening Assays - methods; Humans; Li-Fraumeni Syndrome - complications; Li-Fraumeni Syndrome - diagnosis; Li-Fraumeni Syndrome - epidemiology; Li-Fraumeni Syndrome - genetics; Male; Neoplasms - diagnosis; Neoplasms - epidemiology; Neoplasms - genetics; Phenotype; Transcriptome; Tumor Suppressor Protein p53 - genetics; Young Adult

Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (...