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Tumour genome mapping could lead to improved outcomes, research finds

pharmafile | July 5, 2017 | News story | Research and Development |ย ย Cancer, Hi-Cย 

A research team at the Babraham Institute in Cambridge, UK has revealed a new method to detect and monitor large-scale genomic rearrangements within cancer cells, opening the door to improved diagnosis and expanded treatment options.

The method involves Hi-C, a technique which enables researchers to see arrangements of genetic material within cells and highlight genetic changes which could be overlooked by other techniques. The method is able to identify chromosome rearrangements, where DNA is moved or exchanged with another part of the genome, and copy number variation, where it is copied or deleted. As these incidences are present in most cancers, the method could allow for an understanding into the effects of genetic changes within tumours.

Utilising Hi-C, the team were able to very accurately identify genome changes in the cancer cells of six brain tumour patients. Professor Fraser, lead author of the study, said: “Hi-C could play a pivotal role in the detection of chromosomal abnormalities and may aid the discovery of new fusion genes. The technique works with much lower quality samples than current techniques and has the additional advantage of being able to provide copy number information from the same data. This all comes at a significantly lower cost than standard methods that use DNA sequencing.”

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Dr Louise Harewood added: “Chromosomal rearrangements are seen both in the general population and in the majority of cancers. Detection of chromosome rearrangements in patients can be troublesome and many can be missed. This can be detrimental, particularly in oncology where rearrangements can play both diagnostic and prognostic roles.”

Matt Fellows

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