Researchers have made an important step forward in the fight against testicular cancer - one of the most common cancers in young men with rates rising globally.
Their work helps better understand how tumours arise, with the aim of enabling development of better, targeted treatments to improve outcomes for patients with more aggressive forms of the disease.
Using tumour samples collected by the NHS for the 100,000 Genomes Project (opens in a new tab), researchers have, for the first time, been able to use whole genome sequencing to study the causes of testicular germ cell tumours (TGCTs) in adults.
They mapped the changes to the genome of 60 tumour samples to understand what causes the different subtypes of TCGTs, and how tumours evade detection by the body’s immune system and sometimes recur.
The team found that whole genome duplication, where the entire set of chromosomes within tumour cells are duplicated, is a very early event in TGCTs – possibly occurring in the developing foetus before birth – and plays a key role in cancer development.
These important findings from the team have just been published in the peer-reviewed, open access scientific journal Nature Communications.
Senior author of the study is Professor Matthew Murray (opens in a new tab), an Honorary Consultant Paediatric Oncologist at Addenbrooke’s Hospital, and Co-Lead of the Paediatric Cancer Programme at the CRUK Cambridge Centre, University of Cambridge.
He also led the successful application for the Testis Cancer Genomic Interpretation Partnership (GeCIP) Domain to be included in the 100,000 Genomes Project (opens in a new tab) in 2015, and is Co-Lead for the Testis Cancer Domain.
He said:
Further studies will be required to understand the clinical significance of all the findings we discovered in this work.
It’s taken an enormous amount of effort from all involved over the last nine years since the Testis Cancer Domain was formed to get us to this stage, so we are very pleased that this work can be shared with the scientific community.
We are indebted to the participants who allowed their tumours to be sequenced as part of the 100,000 Genomes Project so that we can understand more about how these tumours arise.
Professor Matthew Murray
Dr Máire Ní Leathlobhair, who led the project from the University of Oxford said:
We are excited to share the results of this work which has been a great collaboration led by the University of Oxford, University of Manchester and University of Cambridge, and involving many others.
As far as we are aware this is the largest study of the whole genome landscape of adult testicular germ cell tumours to date.
Dr Máire Ní Leathlobhair
Around 2,500 men are diagnosed with TGCTs every year in the UK. The disease, although rare, is one of the most common cancers in adolescent and young adult men. Almost all men diagnosed with testicular cancer today are predicted to survive for at least ten years.
Read the team’s ‘Behind the Paper’ article: Double Trouble: Whole Genome Duplication & Immune Disruption in Testicular Cancers (opens in a new tab).