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Letter: Cancer-independent, second somatic <i>NF1</i> mutation of normal tissues in neurofibromatosis type 1

2024-09-09

Abstract excerpt

<h4>INTRODUCTION</h4> Cancer predisposition syndromes mediated by recessive cancer genes generate tumours 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 exome sequencing on 479 tissue biopsies from a child with neurofibromatosis type 1, a multi-system cancer-predisposing syndrome mediated by c...

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Literature Corpus work
98bc1eb8-8845-5f2c-a076-b97aaa4c8a97
DOI
10.1101/2024.09.09.611411
Open publication

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Letter: Cancer-independent, second somatic <i>NF1</i> mutation of normal tissues in neurofibromatosis type 1DOI 10.1101/2024.09.09.611411
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