A link between kidney cancer and exposure to aristolochic acid, an ingredient in some herbal remedies, has been uncovered for the first time.
The findings by the Cancer Genomics of the Kidney consortium (CAGEKID) will have important implications for public health, warns International Cancer Genome Consortium (ICGC).
CAGEKID and its partners sequenced the DNA and RNA of normal and tumour cells in about 100 renal cell carcinoma patients from the Czech Republic, Romania, Russia and the UK, and the results confirmed that certain genetic changes are associated with this type of cancer.
The findings, published in Nature Communications also pointed to specific biological pathways and sets of genes that are affected by the mutations.
There was a very high frequency of genetic changes that are associated with exposure to aristolochic acid in many Romanian patients, although it is not clear exactly how these patients became exposed to it.
The findings suggest that the main causes of kidney cancer may vary between populations, and confirm that aristolochic acid is a carcinogen.
Mark Lathrop, of McGill University, Montreal, Canada, which led the study where the DNA data analyses were carried out, said although it included only 14 patients from Romania, the specific mutation pattern was found in 12 of them.
“We will analyse samples from more patients from Romania and elsewhere in the Balkan region in follow-up research that is now underway to assess the extent of exposure,” he added.
Alvis Brazma, head of functional genomics at EMBL-EBI, which analysed the large quantity of RNA data produced in the studies, said his team spotted “interesting abnormalities”.
“There was clearly a loss of gene function, and that was due to changes in splicing patterns,” he said. “We also saw novel fusion genes – pairs of genes that are fused together and create products that interfere with the proper functioning of the cell.”
Scelo, G et al. Variation in genomic landscape of clear cell renal cell carcinoma across Europe. Nature Comm 29 October 2014. DOI: 10.1038/ncomms6135. [abstract]
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