TABLE 1 from Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome

dataset

posted on 2023-05-01, 14:20 authored by Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack Brzezinski, Ping Luo, Jordan R. Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L. Finlay, Kim E. Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy Kohlmann, Kelvin C. de Andrade, Payal P. Khincha, Sharon A. Savage, Joshua D. Schiffman, Rosanna Weksberg, Trevor J. Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin

Variants in cancer predisposition genes (class 1–2) in the wildtype and variant TP53 cohorts, annotated with cancer type, sex, LFS criteria, inheritance status, segregation, variant location, variant function, and zygosity

Funding

Terry Fox Research Institute (TFRI)

Gouvernement du Canada | Canadian Institutes of Health Research (IRSC)

History

ARTICLE ABSTRACT

Our study clarifies the genomic basis for the phenotypic variability in LFS and highlights the immense benefits of expanding genetic and epigenetic testing of patients with LFS beyond TP53. More broadly, it necessitates the dissociation of hereditary cancer syndromes as single gene disorders and emphasizes the importance of understanding these diseases in a holistic manner as opposed to through the lens of a single gene.