Somatic Genetics

With the increasing availability of exome and whole-genome sequencing (WGS), this has allowed us to characterise the genomic changes in cancer tumours. Using paired tumour-normal tissue samples, we are able to identify those changes that may have an impact on tumour development. Some types of analyses we perform include:

  • detecting SNVs and indels, copy number alterations, and structural variants

  • identification of coding and non-coding cancer driver genes

  • mutational signature analysis

  • complex genomic rearrangements, much as chromothripsis (massive de novo rearrangements of one or multiple chromosomes); chromoplexy (balanced translocations across multiple chromosomes); and kataegis and chromosomal duplications (chromoanasynthesis)

  • evolutionary trajectories

  • analysis of clonality

  • mitochondria and microbiome

As more and more genomes are sequenced, this gives us more power to identify those genetic changes that may lead to tumour development.

Further Reading

Hoang PH, Cornish AJ, Sherborne AL, Chubb D, Kimber S, Jackson G, ...; 2020; An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics. Blood Cancer Journal; 10(10):101 PMID: 33057009

D Chubb, P Broderick, SE Dobbins, M Frampton, B Kinnersley, S Penegar, ...; 2016; Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer; Nature Communications; 7 (1), 1-7 PMID: 27329137