IT’S a type of breast cancer responsible for up to a fifth of cases – and Hunter researchers have discovered some women have inherited the disease despite having no family history of it.
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It is a breakthrough that could widen the scope of genetic screening in Australia and improve survival rates by allowing women diagnosed with triple-negative breast cancer to have more appropriate treatment.
University of Newcastle’s Professor Rodney Scott said they had tested almost 800women in Australia and Poland with triple-negative breast cancer.
BRCA1 and BRCA2 gene mutations were found in 10per cent of patients and, of that number, almost 60per cent did not have a family history of the disease.
Professor Scott said knowing this type of cancer could be inherited meant family members would know to get screened after a relative was diagnosed with it.
He said if doctors knew the women had BRCA1 or BRCA2 gene mutations, they would also be able to receive more appropriate tailored treatment.
The findings showed that triple-negative cancer should be added to the gene screening guidelines, Professor Scott said.
“We’ve known for about 20years that women with an inherited BRCA1 or BRCA2 predisposition tended to have a tumour type similar to triple-negative breast cancer, yet no one took the next logical research step because the testing was expensive.
“Our study was done at a fraction of the cost using new technology.’’
Professor Scott said women could have a gene mutation without a family history as it could be inherited through the paternal side of the family. Furthermore, only 80per cent of those who carried a BRCA1 or BRCA2 mutation actually developed breast cancer, he said.
Professor Scott – co-leader of Hunter Medical Research Institute’s information-based medicine program – said the study also found the average age of diagnosis for BRCA2 mutations was 58.
