Large structural variants impact tumour phenotype

For the past few years we’ve been working with Charlie Gourley’s lab in the CRUK Edinburgh Centre generating WGS data for high grade serous ovarian cancer (HGSOC) tumour samples – and the most recent product of this work, led by Dr AIlith Ewing, has recently surfaced in Clinical Cancer Research.

This work establishes large (multi-megabase) alterations in chromosome structure – and especially large deletions – as a significant impact on tumour function. Ailith has shown that these large variants cause repair deficiencies in tumours that are likely to be targetable by chemotherapeutics – and has written a tweetorial explaining this. These variants should therefore be considered in addition to the small variants that are more commonly profiled in HGSOC patient samples, and intriguingly there is evidence for similar large variants impacting tumours across a range of other cancers.