Abstract IA01: Advancing the field of mutational signatures: Mechanisms and clinical applications

Mutational signatures are the imprints of the biological processes that have gone awry in human cells. We previously outlined the methods for identifying and quantifying base substitution mutational signatures present in primary human cancers (http://cancer.sanger.ac.uk/cosmic/signatures). Here, using a highly-curated cohort of 560 whole genome sequenced breast cancers, we extend the understanding of mutational signatures to include six novel rearrangement signatures. Diving into the detail of individual mutational signatures, we reveal intriguing mechanistic insights into the DNA damage and repair processes that mark the landscape of cancer genomes. Furthermore, we highlight how these mutational signatures distinguish clinical cohorts in breast cancer and have potential clinical applications.Citation Format: Serena Nik-Zainal. Advancing the field of mutational signatures: Mechanisms and clinical applications [abstract]. In: Proceedings of the AACR Special Conference on DNA Repair: Tumor Development and Therapeutic Response; 2016 Nov 2-5; Montreal, QC, Canada. Philadelphia (PA): AACR; Mol Cancer Res 2017;15(4_Suppl):Abstract nr IA01.
Source: Molecular Cancer Research - Category: Cancer & Oncology Authors: Tags: Keynote Presentations: Oral Presentations - Invited Abstracts Source Type: research