Genes to blame for drug resistance in testicular cancer

22 Jan 2015

A major research study has uncovered several new genetic mutations that could drive testicular cancer, and also identified a gene which may contribute to tumors becoming resistant to current treatments.

The study, led by scientists at The Institute of Cancer Research, London and funded by the Movember Foundation, is the first to use state-of-the-art sequencing technology to explore in detail testicular germ cell tumors, which make up the vast majority of testicular cancers and are the most common cancers in young men.

Important findings on resistance to chemotherapy

The researchers, using a genetic technique called whole-exome sequencing to examine tumor samples from 42 patients with testicular cancer treated at the Royal Marsden NHS Foundation Trust, uncovered a number of new chromosome duplications and other abnormalities that could contribute to the development of this cancer, as well as confirming a previous association with the gene named KIT.


Their study also found defective copies of a DNA repair gene called XRCC2 in a patient who had become resistant to platinum-based chemotherapy. They were able to verify the link between XRCC2 and platinum resistance by sequencing an additional sample from another platinum-resistant tumor. This research provides a clue to why around 3% of patients develop resistance to platinum chemotherapy, as well as new insights into testicular germ cell tumors generally.

“One step closer to personalized medicine”

"Our study is the largest comprehensive sequencing study of testicular tumors, describing their mutational profile in greater detail. 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” stated 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.

Additionally, Professor Paul Workman, Chief Executive of The Institute of Cancer Research, London added that new additional studies with more patients will uncover the key genes driving a cancer's development, contributing to a most effective use of existing drugs and leading to the next generation of drugs for personalized medicine.


Source: The Institute of Cancer Research

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