'Significant' breast cancer discovery could lead to personalised treatment

The discovery of highly individual factors in breast cancer points to causes of the disease and opens the way to personalised treatment, researchers say.

Cancer in Queensland is under review

Source: AAP

The latest breast cancer research could lead to more personalised care for patients and help further understanding of the causes of the disease, scientists say.

A study involving people from around the world has been hailed as giving a more complete picture of the changes in DNA in breast cancer, providing potential opportunities for new treatments.

Australian breast cancer survivor, Renata Gorton, was diagnosed with grade three, invasive HER1 positive early breast cancer last year.

She was 32 at the time and had no family history of breast cancer.

"It was a shock and it was distressing and it was like, why me? Why has this happened to me?" she said.

Ms Gorton had surgery to remove the cancerous lump doctors found in her breast, followed by chemotherapy, radiation and hormone treatment.

"It's what my oncologist called the 'Rolls Royce' of cancer treatment because I was young, and it was aggressive and she said my body could handle it. So they just hit me with everything basically." 

Almost 16,000 cases of breast cancer were diagnosed in Australia last year. 

Ms Gorton hopes the research discovery will help scientists find if there is a way to prevent the disease in the first place.

"I mean if I have a child, I have a 50 per cent chance of passing that gene on to them. This research will come in handy for them because they will be able to get tested early, and hopefully, science can do something to stop the gene from mutating."

The study of 560 breast cancer genomes - complete genetic codes - has turned up 93 genes associated with the disease.

The results, published in the  Nature and Nature Communications journal, provide evidence that breast cancer genomes are "highly individual", researchers from the Wellcome Trust Sanger Institute said.

"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 characterise the types of mutations that happen in certain breast cancers."

The team looked at genomes in patients, four of whom were men, and focused on mutations that encouraged the disease to grow and the patterns - known as mutational signatures - in each tumour.

They found that women with genes that left them at a higher risk of developing breast and ovarian cancer had entire genome profiles very different from one another and distinctive from other breast cancers.

Dr Serena Nik-Zainal, who led the team of researchers, said: "In the future, we'd like to be able to profile individual cancer genomes so that we can identify the treatment most likely to be successful for a woman or man diagnosed with breast cancer. It is a step closer to personalised healthcare for cancer."

Australian Breast Care and Clinical Nurse Deborah Maguire says some targeted treatment is being used already. 

She says its a much better option for patients.

"Less side effects, obviously less side effects, better outcomes and a more promising future. If patients are having surgery, then chemotherapy, then radiation and then a hormone tablet their side effects could be more severe than patients just having radiation." Ms Maquire said.

Dr Ewan Birney, from the European Bioinformatics Institute, analysed the sequence of genetic information in the sample genomes.

He said: "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 characterise the types of mutations that happen in certain breast cancers."

Professor Sir Mike Stratton, director of the Wellcome Trust Sanger Institute, said discovering gene mutations was "crucial" to understanding the causes of cancer and coming up with better treatments.

He said: "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."

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Source: AAP, SBS News


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