Study researcher Dr. Peter Simpson told Xinhua that when there’s a mutation or deficiency in specific genes, a person can become more susceptible to develop breast cancer.
“The BRCA1 and BRCA2 genes are guardians that look after DNA in our body.
“These are really critical genes in every cell of our body and they go through and repair DNA when it gets damaged,’’ Simpson said.
He noted that by using a computer programme to map the Genome sequencing of mutations in 560 breast cancers, were able to look at different patterns of mutation and understand how a tumour had arisen.
“Results showed that almost 22 per cent of breast tumours had a genetic signature reflecting a BRCA deficiency, even though the patient had not always inherited a mutation in one of the two genes,’’ Simpson said.
According to the researcher, in clinical trials at the moment, PARP inhibitor drugs can act to restore these BRCA1 or BRCA2 genes.
“It’s very significant; it’s building a really big body of evidence to suggest that in the future we can sequence a patient’s tumour.
“We can understand the mutation and say whether the patient will respond better to chemotherapy or the PARP drug.
“In the future we can see this kind of test becoming a kind of diagnostic that will determine what type of therapy a patient will have.
“This pattern of mutation will be a useful bio-marker,’’ Simpson said.
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