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‘Humphrey’ helps unravel the genetics of testicular cancer

Posted on 13 May, 2013 by Louise Dean

The Movember Team and Dr Clare Turnbull with Next Generation sequencer fondly christened ‘Humphrey’

The Movember Team and Dr Clare Turnbull with Next Generation sequencer fondly christened ‘Humphrey’
I recently joined our friends from Movember on a tour of the genetics facility here at The Institute of Cancer Research, London, to understand how new research is unravelling the genetics underlying testicular cancer.

Testicular cancer is the most common cancer in young men and research has shown that the incidence is on the increase, having doubled in the last 30 years.

Dr Clare Turnbull, Team Leader in Predisposition and Translational Genetics at The Institute of Cancer Research (ICR), is carrying out a number of different studies to identify the genes which increase a man’s risk of developing testicular cancer.

Dr Turnbull, who is also an Honorary Consultant at The Royal Marsden, is recruiting male volunteers, and their families, into the largest study in the world of the genetic causes of testicular cancer. To date, over 4,000 men with testicular cancer have participated in her research.  Studying their DNA is providing valuable information to help Dr Turnbull unpick which genetic mutations increase a man’s risk of developing testicular cancer.

Funding from Movember has enabled Dr Turnbull to purchase a Next Generation sequencer for her laboratory. The sequencer, which has fondly been christened ‘Humphrey’ by her team, enables Dr Turnbull to sequence thousands of genes of volunteer patients in a matter of hours. She then analyses the information to look for genetic mutations which are associated with testicular cancer.

While demonstrating the kit to Movember, Dr Turnbull explained: “By understanding the genetic basis of the disease we hope to be able to identify those men at high-risk of the disease before they develop the cancer.  This may enable us to offer these men screening so that we can catch the disease very early.”

Whenever I enter a lab at the ICR it is always awe-inspiring to see how technology has advanced scientific research. Dr Turnbull’s laboratory is a state-of-the-art genetics facility which houses a range of sequencers, each specialised for either sequencing individual genes or larger regions of the genome.  There is also a vast amount of robotic equipment for high-speed sample dispensing. Gone are the days when a researcher needed to spend hours pipetting samples.

However, research is not all about hi-tech instrumentation. Dr Turnbull’s research generates huge amounts of data through the sequencing of thousands of genes in thousands of subjects. This data needs to be processed, analysed and interpreted. In order to do this, complex computational infrastructure, massive data storage and skilled bioinformatic analyses are essential.

Through Movember’s support, Dr Turnbull will be able to recruit a bioinformatician dedicated to analysing these data. This is essential in helping her identify genes involved in causing testicular cancer.

Dr Turnbull’s research over the last 10 years has been highly successful and has recently identified nine new genetic loci associated with testicular cancer development.  This brings the total number of loci for testicular cancer identified to 20 – and all of these have been found in studies led by or involving Dr Turnbull.

“By understanding which genes and mutation are involved in the disease, we may be able to develop drugs specifically targeted at those pathways, offering better, more personalised treatment to patients with testicular cancer”, Dr Turnbull said.

However, she also explained that it is vital that she is able to continue to recruit large number of men with testicular cancer into her study in order to carry out these complex experiments and analyses.

Some 39 oncology centres across the UK are already recruiting patients for Dr Turnbull’s research.

“We have been contacted by many more centres at which men with testicular cancer are keen to enrol into our research.  With Movember’s support we can appoint a recruitment officer and expand our studies to these additional oncology centres.  This is fantastic news for us and for the patients.”


genetics Movember testicular cancer
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