Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1
Thomas R. W. Oliver, Andrew R. J. Lawson, Henry Lee-Six, Anna Tollit, Hyunchul Jung, Yvette E. Hooks, Rashesh Sanghvi, Matthew D. Young, Timothy M. Butler, Pantelis A. Nicola, Taryn D. Treger, Stefanie V. Lensing, G.A. Amos Burke, Kristian Aquilina, Ulrike Löbel, , Sam Behjati
The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.
Nature Genetics · Feb 25, 2025Peer-reviewedCancer Biology