Whole Genome Sequencing Uncovers New Cancer Mutational Signatures

Whole Genome Sequencing Uncovers New Cancer Mutational Signatures

Table of Contents

May 2, 2022

Mutational Signatures in Cancer

Though common genetic mutations are found across tumor types, every cancer in every individual is slightly different due to the unique microenvironment of the cells during tumorigenesis. These slight variations produce different mutational signatures – markers of the particular DNA repair and copying machinery failures that allowed mutations to occur.

Understanding the causative mutations in a given cancer can hopefully point to new therapeutic strategies. One of the most common mutational signatures found in cancer is a marker of aging – the failure of an endogenous biological process causes mutations of cytosine to thymine in CpG islands, important regulatory regions scattered throughout the genome.

What Can More Than 12,000 Cancer Samples Tell Us?

Given the high heterogeneity of cancer, however, common mutational signatures will only contribute a certain amount to our understanding. For the fine-tuned treatments that precision medicine researchers are searching for, rare signatures must also be identified and understood, and this requires the largest cohorts possible.

Luckily, thanks in part to the UK’s 100,000 Genomes Project, a cohort of over 12,000 cancer samples have been subjected to whole genome sequencing and analyzed for mutational signatures. The results, published recently in Science, represent the largest study of its kind and corroborate established mutational signatures, as well as identifying new ones. 

For example, a new single-base substitution of cytosine to adenine showed up consistently in kidney and bladder cancers specifically, suggesting that the substitution may lie in a region that regulates a process specific to those organs. These are the kinds of biological insights that can be gained from big genomic data, and larger cohorts like that of this study provide much higher analytical power and robustness.

Outsourcing Bioinformatics Analysis

These kinds of data analyses require highly specialized, reproducible bioinformatics tools and pipelines. Outsourcing your bioinformatics needs to a service provider like Bridge Informatics can eliminate many of the common challenges associated with the storage and analysis of big data in the life sciences. Book a free discovery call to discuss your project needs.

Jane Cook, Journalist & Content Writer, Bridge Informatics

Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in the management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email [email protected] or [email protected].





Genome Sequencing
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