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The discovery was led by Logan Walker, associate professor of pathology and biomedical sciences at the University of Otago (Christchurch), who said the development of a proposed risk-reducing drug had already received funding and would be led by the university.
The initial study was the world’s largest on women known to have mutations in the breast cancer genes – BRCA1 and BRCA2.
He made two important discoveries, he said.
“We have found a gene – SULT1A1 – that may help doctors reduce the risk of breast cancer in women, especially if they have also inherited a BRCA1 gene mutation.
“We also found that women who inherited a BRCA1 gene with missing segments are, for reasons still unknown, at the highest risk of developing breast cancer.”
The study, in collaboration with the International Consortium of BRCA1/2 Modifier Researchers (CIMBA), involved approximately 26,000 women known to have mutations in the BRCA1 or BRCA2 genes, and 166 researchers from 160 institutes around the world. .
In New Zealand, around one in 250 people inherit a genetic mutation in these two genes, which means they are at high risk of developing breast and ovarian cancer.
Professor Walker said currently the most effective risk reduction strategy for these women at high risk of breast cancer is bilateral mastectomy.
Although effective, the approach was irreversible and could cause ongoing psychological and physiological harm to patients, especially young women.
He said the study found that reduced levels of the protein produced by the SULT1A1 gene played an important role in the metabolism of carcinogens and reduced the risk of breast cancer.
“When we turned down SULT1A1 gene activity in breast cells, the cells grew slower and were more resistant to DNA damage.
“This anti-cancer feature supported the epidemiological results of 26,000 women,” he said.
The next step was to develop a harm-reducing drug – a project that will be led by Dr George Wiggins of Otago.
He said prophylactic drug treatments were becoming well established for the prevention of different diseases.
“For example, aspirin, statins and antihypertensive therapies have had a major impact in reducing the incidence of cardiovascular disease and increasing life expectancy.
“Comparatively, progress in therapeutic intervention to prevent breast cancer has been poor.
“Providing easily accessible, non-invasive preventative therapy to women at high risk of developing breast cancer would have many benefits for the healthcare system, as well as for patients and their whanau.
“Such therapy could give genetically predisposed young women the ability to carry and breastfeed their children by delaying or supplanting the need for risk-reducing surgery.”
Professor Walker said effective prevention strategies for women at increased risk of breast cancer were also key to controlling and reducing the social and economic impact of the disease.
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