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PanCancer analysis of somatic mutations in repetitive regions reveals_GenomicMedicine.pdf (2.38 MB)

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2022-03-14

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cc by (c) Bousquets Muñoz, Pablo et al, 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/201044

PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

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Recurs relacionat

https://doi.org/10.1038/s41525-022-00292-2

Resum

Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci. We developed a mutation caller for repetitive regions, and applied it to study repetitive non protein-coding genes in more than 2200 whole-genome cases. We identified a recurrent mutation at position c.28 in the gene encoding the snRNA U2. This mutation is present in B-cell derived tumors, as well as in prostate and pancreatic cancer, suggesting U2 c.28 constitutes a driver candidate associated with worse prognosis. We showed that the GRCh37 reference genome is incomplete, lacking the U2 cluster in chromosome 17, preventing the identification of mutations in this gene. Furthermore, the 5'-flanking region of WDR74, previously described as frequently mutated in cancer, constitutes a functional copy of U2. These data reinforce the relevance of non-coding mutations in cancer, and highlight current challenges of cancer genomic research in characterizing mutations affecting repetitive genes.© 2022. The Author(s).

Matèries

Genòmica, Càncer

Matèries (anglès)

Genomics, Cancer

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Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

BOUSQUETS MUÑOZ, Pablo, et al. PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2. npj Genomic Medicine. 2022. Vol. 7. ISSN 2056-7944. [consulted: 8 of August of 2026]. Available at: https://hdl.handle.net/2445/201044

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