Structural variation in cancer: role, prevalence, and mechanisms

MR Cosenza, B Rodriguez-Martin… - Annual Review of …, 2022 - annualreviews.org
Somatic rearrangements resulting in genomic structural variation drive malignant
phenotypes by altering the expression or function of cancer genes. Pan-cancer studies have …

Structural mutations in cancer: mechanistic and functional insights

K Inaki, ET Liu - Trends in Genetics, 2012 - cell.com
Next-generation sequencing (NGS) has enabled the comprehensive and precise
identification of many somatic structural mutations in cancer. Analyses integrating point …

Somatic structural variation and cancer

JMC Tubio - Briefings in functional genomics, 2015 - academic.oup.com
With the advent of next-generation sequencing technologies, we have witnessed a rapid
pace of discovery of new patterns of somatic structural variation in cancer genomes, and an …

Unravelling the tumour genome: The evolutionary and clinical impacts of structural variants in tumourigenesis

A Hamdan, A Ewing - The Journal of Pathology, 2022 - Wiley Online Library
Structural variants (SVs) represent a major source of aberration in tumour genomes. Given
the diversity in the size and type of SVs present in tumours, the accurate detection and …

Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers

B Alaei-Mahabadi, J Bhadury… - Proceedings of the …, 2016 - National Acad Sciences
Tumor genomes are mosaics of somatic structural variants (SVs) that may contribute to the
activation of oncogenes or inactivation of tumor suppressors, for example, by altering gene …

[PDF][PDF] When genome maintenance goes badly awry

EM Kass, ME Moynahan, M Jasin - Molecular cell, 2016 - cell.com
Genetic abnormalities are present in all tumor types, although the frequency and type can
vary. Chromosome abnormalities include highly aberrant structures, particularly …

[PDF][PDF] A pan-cancer compendium of genes deregulated by somatic genomic rearrangement across more than 1,400 cases

Y Zhang, L Yang, M Kucherlapati, F Chen… - Cell reports, 2018 - cell.com
A systematic cataloging of genes affected by genomic rearrangement, using multiple patient
cohorts and cancer types, can provide insight into cancer-relevant alterations outside of …

Mechanisms underlying mutational signatures in human cancers

T Helleday, S Eshtad, S Nik-Zainal - Nature reviews genetics, 2014 - nature.com
The collective somatic mutations observed in a cancer are the outcome of multiple
mutagenic processes that have been operative over the lifetime of a patient. Each process …

Structural variations in cancer and the 3D genome

F Dubois, N Sidiropoulos, J Weischenfeldt… - Nature Reviews …, 2022 - nature.com
Structural variations (SVs) affect more of the cancer genome than any other type of somatic
genetic alteration but difficulties in detecting and interpreting them have limited our …

High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

Y Zhang, F Chen, NA Fonseca, Y He, M Fujita… - Nature …, 2020 - nature.com
The impact of somatic structural variants (SVs) on gene expression in cancer is largely
unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes …