학술논문
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Document Type
article
Author
Nicholas Light; Mehdi Layeghifard; Ayush Attery; Vallijah Subasri; Matthew Zatzman; Nathaniel D. Anderson; Rupal Hatkar; Sasha Blay; David Chen; Ana Novokmet; Fabio Fuligni; James Tran; Richard de Borja; Himanshi Agarwal; Larissa Waldman; Lisa M. Abegglen; Daniel Albertson; Jonathan L. Finlay; Jordan R. Hansford; Sam Behjati; Anita Villani; Moritz Gerstung; Ludmil B. Alexandrov; Gino R. Somers; Joshua D. Schiffman; Varda Rotter; David Malkin; Adam Shlien
Source
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
Li-Fraumeni syndrome (LFS) is associated with pathogenic germline TP53 variants and predisposes patients to cancer; understanding the evolution and drivers of LFS-related tumours remains crucial. Here, the authors analyse 22 LFS tumours using whole-genome sequencing and reconstruct the evolution and timing of somatic driver alterations.