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Genetic insight offers hope for breast cancer treatment

The type of treatment a patient receives is primarily based on the person's background and genetics.

The type of treatment a patient receives is primarily based on the person's background and genetics. Photo: Getty

Researchers have discovered that more women could benefit from treatments thought to only be effective for rare, genetically pre-disposed breast cancers.

The new study, published by researchers from the Wellcome Trust Sanger Institute in the UK, suggested a larger number of breast cancers were genetically similar to the uncommon BRCA1  and BRCA2 cancer-related genes than previously thought.

Public knowledge and understanding of the genes BRCA1 and BRCA2 and their relationship with breast and ovarian cancers has grown enormously over the last few years, thanks in large part to Angelina Jolie.

The actress made headlines around the world in 2013 when she revealed she had undergone a double mastectomy after discovering she was positive for the BRCA1 gene mutation.

Angelina Jolie brought global recognition to these genes after getting a double mastectomy and oophorectomy

Angelina Jolie underwent a double mastectomy and oophorectomy.

Healthy BRCA1 and BRCA2 are genes that produce tumour-suppressing proteins. When these genes are mutated or damaged, they are associated with up to 25 per cent of hereditary breast cancers and up to 5 per cent of breast cancers altogether. They are also associated with about 15 per cent of ovarian cancers. Ms Jolie also opted for the full removal of her ovaries, known as an oophorectomy, in 2015.

The new research indicates that the drugs designed specifically to treat BRCA1 and BRCA2 cancer patients, called PARP inhibitors, could benefit many more cancer sufferers.

The research analyses the genomes of 560 patients, screening for all possible mutations and using a computer program to search for “mutation signatures” in the tumours of these patients that might be similar to the BRCA1 and BRCA2 mutations.

Scientists discovered that many of these tumour mutation signatures were in fact identical to the two known hereditary mutations, even though these patients did not carry the faulty gene.

Lead author of the study, Dr Serena Nik-Zainal, said the results suggested clinical trials should be developed to test PARP inhibitors on these compatible patients.

“This could change how clinical trials are designed in the future,” she said.


The New Daily is a media partner of the Women in Super Mother’s Day Classic, which takes place in 100 locations around Australia on Sunday May 14, raising money for the National Breast Cancer Foundation to help fund breast cancer research.

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