Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Chromothripsis drives the evolution of gene amplification in cancer

O Shoshani, SF Brunner, R Yaeger, P Ly… - Nature, 2021 - nature.com
Focal chromosomal amplification contributes to the initiation of cancer by mediating
overexpression of oncogenes,–, and to the development of cancer therapy resistance by …

Genomics-driven precision medicine for advanced pancreatic cancer: early results from the COMPASS trial

KL Aung, SE Fischer, RE Denroche, GH Jang… - Clinical Cancer …, 2018 - AACR
Purpose: To perform real-time whole genome sequencing (WGS) and RNA sequencing
(RNASeq) of advanced pancreatic ductal adenocarcinoma (PDAC) to identify predictive …

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

J Staaf, D Glodzik, A Bosch, J Vallon-Christersson… - Nature medicine, 2019 - nature.com
Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome
interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative …

Promoter of lncRNA gene PVT1 is a tumor-suppressor DNA boundary element

SW Cho, J Xu, R Sun, MR Mumbach, AC Carter… - Cell, 2018 - cell.com
Noncoding mutations in cancer genomes are frequent but challenging to interpret. PVT1
encodes an oncogenic lncRNA, but recurrent translocations and deletions in human cancers …

Structural alterations driving castration-resistant prostate cancer revealed by linked-read genome sequencing

SR Viswanathan, G Ha, AM Hoff, JA Wala… - Cell, 2018 - cell.com
Nearly all prostate cancer deaths are from metastatic castration-resistant prostate cancer
(mCRPC), but there have been few whole-genome sequencing (WGS) studies of this …

Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies

A Degasperi, TD Amarante, J Czarnecki, S Shooter… - Nature cancer, 2020 - nature.com
Mutational signatures are patterns of mutations that arise during tumorigenesis. We present
an enhanced, practical framework for mutational signature analyses. Applying these …

Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis

E Letouzé, J Shinde, V Renault, G Couchy… - Nature …, 2017 - nature.com
Genomic alterations driving tumorigenesis result from the interaction of environmental
exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is …