Mutational signatures: emerging concepts, caveats and clinical applications
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 …
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
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …
Chromothripsis drives the evolution of gene amplification in cancer
Focal chromosomal amplification contributes to the initiation of cancer by mediating
overexpression of oncogenes,–, and to the development of cancer therapy resistance by …
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
Purpose: To perform real-time whole genome sequencing (WGS) and RNA sequencing
(RNASeq) of advanced pancreatic ductal adenocarcinoma (PDAC) to identify predictive …
(RNASeq) of advanced pancreatic ductal adenocarcinoma (PDAC) to identify predictive …
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome
interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative …
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
Noncoding mutations in cancer genomes are frequent but challenging to interpret. PVT1
encodes an oncogenic lncRNA, but recurrent translocations and deletions in human cancers …
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
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 …
(mCRPC), but there have been few whole-genome sequencing (WGS) studies of this …
Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …
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 …
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
Genomic alterations driving tumorigenesis result from the interaction of environmental
exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is …
exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is …