A major UK-led study has come "much closer" to a complete description of the DNA changes in breast cancer, scientists said last night.
Researchers identified thousands of mutations in some 560 patients with breast cancer, during the study, reported in two publications of the Nature group.
The outcome was the reporting of five new genes linked to the disease and 13 mutational signatures influencing tumour development.
The scientists said that women with the BRCA1 and BRCA2 genes had whole cancer genome profiles that were highly distinctive from each other and were also "very different" to other kinds of breast cancer.
The study, by the Wellcome Trust Sanger Institute, Cambridge, involved breast cancer genomes from 556 women and four men.
Researchers said the findings would be a "step closer" to personalised treatment for breast cancer.
Institute director Professor Sir Mike Stratton said: “All cancers are due to mutations that occur in all of us in the DNA of our cells during the course of our lifetimes. Finding these mutations is crucial to understanding the causes of cancer and to developing improved therapies.
"This huge study, examining in great detail the many thousands of mutations present in each of the genomes of 560 cases brings us much closer to a complete description of the changes in DNA in breast cancer and thus to a comprehensive understanding of the causes of the disease and the opportunities for new treatments.”
Researcher Dr Ewan Birney said: “We know genetic changes and their position in the cancer genome influence how a person responds to a cancer therapy. For years we have been trying to figure out if parts of DNA that don’t code for anything specific have a role in driving cancer development.
"This study both gave us the first large-scale view of the rest of the genome, uncovering some new reasons why breast cancer arises, and gave us an unexpected way to characterize the types of mutations that happen in certain breast cancers.”
Nik-Zainal S et al. Landscape of somatic mutations in 560 breast cancer whole genome sequences. Nature 2 May 2016; doi: 10.1038/nature17676
Morganella S et al. The topography of mutational processes in breast cancer genomes. Nature Communications 2 May 2016; doi: 10.1038/10.1038/NCOMMS11383
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