several new genetic mutations that could drive the development of testicular cancers in men – and also, very critically, identified a gene, which may contribute to some tumors becoming resistant to current treatments. These findings provides clues to why around three percent of patients develop resistance to platinum chemotherapy, as well as new insights into testicular germ cell tumors generally.A world where no man dies from testicular cancer just got a little bit closer. The passion of our Mo's around the globe made this discovery possible. Nice one.
The outcomes of these findings could have significant impacts for men suffering with this disease. In the future, it might mean that men who are destined to fail treatment (currently around three percent of cases) might be able to be identified before they endure a course of chemotherapy and can be offered different treatments more suited to their particular type of tumor.
The team has also identified several genetic variations in men who develop a testicular cancer when compared to men who don’t. This is important in understanding why some men develop the disease and others don’t.
Dr. Clare Turnbull and her team at The Institute of Cancer Research - one of the world's most influential cancer research institutes - led this research project into testicular cancer, which is one of the many research programs across the UK being funded by the Movember Foundation. These breakthroughs are made possible by the commitment and fundraising prowess of you, our Mo Bros and Mo Sistas. Your continued dedication to men’s health will lead to others like it.
To hear more from Clare about the details of her findings, check out her interview on BBC London Radio here at 37:20 in.
Dr. Clare Turnbull, Team Leader in Predisposition and Translational Genetics at The Institute of Cancer Research, London, and Honorary Consultant in Clinical Genetics at The Royal Marsden NHS Foundation Trust, said:
“Our study is the largest comprehensive sequencing study of testicular tumours published to date, describing their mutational profile in greater detail than has been possible using previous technologies. We have identified new potential driver mutations for this type of cancer, and provided new evidence of a link between mutations in the gene XRCC2 and platinum treatment-resistant tumors.We now need additional studies with a larger number of patients, focusing in particular on platinum-resistant tumors, to help our discoveries lead to new options for those unlucky men whose cancer progresses in spite of the best available treatments.”
Paul Villanti, Executive Director of Programs, Movember Foundation, said:
"As a strategic funder of over 800 men’s health programs around the world, we recognize the significance of this development and are proud to have been able to provide funding. Understanding the risk factors for developing a testicular cancer and also what is different in the tumors of men who don’t respond to chemotherapy is a critical piece of the puzzle and moves us one step closer to the Movember Foundation's goal of having an everlasting impact on the face of men’s health.Dr. Turnbull and her colleagues should be incredibly proud of the progress they are making and, while there is still a great deal of work to be done, they're making the Movember community confident in the knowledge that funds they’ve raised are genuinely and positively impacting the lives of men.”
The Science Bit
This major research study has uncovered several new genetic mutations that could drive testicular cancer – and it also identified a gene, which may contribute to tumors becoming resistant to current treatments.
The study is the first to use state-of-the-art sequencing technology to explore in detail testicular germ cell tumors, which make up the majority of testicular cancers and are the most common cancers in young men.
The researchers, whose study was published in Nature Communications on January 22, 2015, used a genetic technique called ‘whole-exome sequencing’ (exome = the parts of DNA that specifically lead to protein production) to examine tumor samples from 42 patients with testicular cancer treated at the Royal Marsden NHS Foundation Trust.
They uncovered a number of new genetic code duplications and other abnormalities that could contribute to the development of testicular cancer, as well as confirming a previous association with the gene KIT (gene that produces a specific protein involved in communication within cells).
Their study also found defective copies of a gene that repairs genes (called XRCC2) in a patient who had become resistant to platinum chemotherapy (a type of chemotherapy often used for advanced or metastatic testicular cancer). They were able to verify the link between this gene and platinum resistance by sequencing an additional sample from another platinum-resistant tumor.
Although generally testicular cancer responds well to treatment, resistance to platinum-based chemotherapy is associated with a poor long-term survival rate. The research provides a clue to why around three percent of patients develop resistance to platinum chemotherapy, as well as new insights into testicular cancer tumors generally.
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Still baffled by DNA, genes and role they play? We dont blame you. Listen to the BBC podcast with the ICR's Prof Nazneen Rahman talking Genomics here.
Dr. Clare Turnbull, some of the Movember Foundation team and 'Humphrey', one of the Next Gen Gene Sequencers.
