Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome.

Publication Title

bioRxiv

Authors

• Hunter L Colegrove
• Marianne E Dubard-Gault, Providence Swedish Cancer Institute; Seattle, WA, USA.Follow
• Henry Marshall
• Brendan F Kohrn
• Thomas H Smith
• Zachary K Norgaard
• Fang Yin Lo
• Elizabeth K Schmidt
• Jacob E Higgins
• Charles C Valentine
• Desiree A Marshall
• John I Clark
• Eric Q Konnick
• Jesse J Salk
• Marshall S Horwitz
• Raheleh Rahbari
• Alison F Feder
• Rosa Ana Risques

Document Type

Article

Publication Date

1-13-2026

Keywords

TP53 mutations; clonal expansion; duplex sequencing; mutational signatures; selection; somatic mutations.; washington; swedish; swedish cancer; genomics

Abstract

Li-Fraumeni Syndrome (LFS) is caused by germline pathogenic variants in

Area of Special Interest

Cancer

Specialty/Research Institute

Oncology

DOI

10.64898/2026.01.12.699071