| Literature DB >> 35949260 |
Andrea Degasperi1,2, Xueqing Zou1,2, Tauanne Dias Amarante1,2, Andrea Martinez-Martinez1,2, Gene Ching Chiek Koh1,2, João M L Dias1,2, Laura Heskin1,2, Lucia Chmelova1,2, Giuseppe Rinaldi1,2, Valerie Ya Wen Wang1,2, Arjun S Nanda1,2, Aaron Bernstein1,2, Sophie E Momen1,2, Jamie Young1,2, Daniel Perez-Gil1,2, Yasin Memari1,2, Cherif Badja1,2, Scott Shooter1,2, Jan Czarnecki1,2, Matthew A Brown3,4, Helen R Davies1,2, Serena Nik-Zainal1,2.
Abstract
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that have arisen in each patient's cancer. We performed mutational signature analyses on 12,222 WGS tumor-normal matched pairs, from patients recruited via the UK National Health Service. We contrasted our results to two independent cancer WGS datasets, the International Cancer Genome Consortium (ICGC) and Hartwig Foundation, involving 18,640 WGS cancers in total. Our analyses add 40 single and 18 double substitution signatures to the current mutational signature tally. Critically, we show for each organ, that cancers have a limited number of 'common' signatures and a long tail of 'rare' signatures. We provide a practical solution for utilizing this concept of common versus rare signatures in future analyses.Entities:
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Year: 2022 PMID： 35949260 PMCID： PMC7613262 DOI： 10.1126/science.abl9283
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 63.714