Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.

doi:10.1038/s41588-025-02097-2

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Article

Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.

Nature genetics - 1 Mar 2025

Oliver Thomas R W, Lawson Andrew R J, Lee-Six Henry, Tollit Anna, Jung Hyunchul, Hooks Yvette, Sanghvi Rashesh, Young Matthew D, Butler Timothy M, Nicola Pantelis A, Treger Taryn D, Lensing Stefanie V, Burke G A Amos, Aquilina Kristian, Löbel Ulrike, Cortes-Ciriano Isidro, Hargrave Darren, Jorgensen Mette, Jessop Flora A, Coorens Tim H H, Flanagan Adrienne M, Allinson Kieren, Martincorena Inigo, Jacques Thomas S, Behjati Sam

Abstract excerpt

Cancer predisposition syndromes mediated by recessive cancer genes generate tumors via somatic variants (second hits) in the unaffected allele. Second hits may or may not be sufficient for neoplastic transformation. Here we performed whole-genome and whole-exome sequencing on 479 tissue biopsies from a child with neurofibromatosis type 1, a multisystem cancer-predisposing syndrome mediated by constitutive...

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PMID: 40000831
DOI: 10.1038/s41588-025-02097-2
PMCID: PMC11906363

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