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Cambridge scientists discover genetic clue to breast cancer relapse

A research team from the Wellcome Trust Sanger Institute in Cambridge has found a clue as to why some breast cancers relapse – a discovery that could be the key to more effective treatment.

About one in five people with breast cancer suffer a relapse, with the cancer returning either in the same place as the original tumour or in another part of the body.

The results of the new study, reported by the BBC online, revealed that these returning cancers are likely to contain certain genes or combinations of genes, making them indicators of higher risk. Breast cancer patients who test positive for them could therefore be more closely monitored and given earlier treatment, which is far more likely to be effective.

The team analysed data from the tumours of 1,000 breast cancer patients, including 161 people whose cancer had recurred or spread. When comparing primary and secondary tumours, they found noticeable genetic differences. Several of the mutations present in the secondary cancers were relatively uncommon in cancers diagnosed for the first time.

According to the BBC report, Dr Lucy Yates, clinical research oncologist from the Sanger Institute in Cambridge, said that the patterns they found suggest the complement of cancer genes in some primary cancers may make them more likely to relapse in the future, while additional cancer genes acquired after diagnosis may actually drive the cancer relapse. She said doctors may be able to use this knowledge to identify patients at high risk of their cancer returning, taking regular samples of cancer tissue to track how the disease is progressing and changing. They could then pick the best treatment for targeting particular genetic mutations.

Dr Yates adds: "Further work is needed to validate these findings in much larger datasets, but we hope that in the future it will be possible at the point of diagnosis to look at the cancer genes in an individual's cancer and determine whether it is likely to return in the future and, if so, to select a personalised therapy to prevent that event."

Vicki Kiesel, Genetic Director of GeneHealth UK and a registered genetic counsellor working within the NHS, comments: “Considerable strides have been made in recent years with regard to cancer treatment and detection. What’s significant about this study is that if we can identify the mutated genes involved in cancer development we can use that to the patient’s advantage – identifying those at higher risk of recurrence, and targeting treatments so the outcome has a higher likelihood of success. Recent developments in targeted chemotherapy has been immense but I believe we are going to see further significant development in this field in coming years which will change the way we approach cancer treatment.”

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