The discovery of more than 70 genetic markers linked to breast cancer has been described as an “exciting” step forward for women with and without a genetic predisposition to the disease.
The large-scale research, published in the Nature journal on Tuesday, which involved 550 scientists and more than 270,000 women from around the world, found 72 new genetic indicators to add to the existing pool of 100.
“This ultimately could benefit all women – in those with a strong family history and those without,” an Australian researcher involved with the study, Professor Georgia Chenevix-Trench, told The New Daily.
The finding is expected to allow researchers to develop a simple blood test within five years to be used in conjunction with a breast screening to help pinpoint specific genes associated with breast cancer.
“Information on these variants could be combined with other strong breast cancer risk factors, such as age, family history and mammographic density to provide more precise estimates of risk,” said Associate Professor Roger Milne, epidemiology director of Cancer Council Victoria.
Women could then use the information to guide their decisions about how to reduce their risk, he said.
“In combination, these [gene] variants are one of the stronger risk factors, along with age, family history of breast cancer and mammographic density,” Dr Milne said.
Queensland Institute of Medical Research’s Professor Chenevix-Trench told The New Daily it would help identify women at high risk who require earlier and more intensive screening.
“It is very exciting research because we are starting to predict how these markers might actually work which leads the way to research aimed a preventing breast cancer with a risk reduction medication, as is done for heart disease,” she said.
“For women with mutations in the [rare] BRCA1 or BRCA2 gene this will eventually give them more precise, individual estimates of their risk that they can use to plan their strategy for screening, surgery or potential risk reduction medication.”
Dr Pallave Dasari, an Australian breast cancer research fellow at University of Adelaide, said that while she believed this was a “really valuable” progression in understanding family history risk, a test was “extremely premature” at this stage.
“We need to be a bit careful with genetic testing. If a test is developed and a woman finds out she is at high risk, what steps are in place for her to take action in reducing that risk?” she told The New Daily.
“Could it place her in a difficult position when it comes to insurance? Her insurance company might not cover her for breast cancer.”
Dr Dasari added that it was also important to remember that family history was just one risk factor.
“About eight out of nine women with breast cancer don’t have a family history, so such a test would not help most women,” she said.
“But there are other risk factors. These include obesity and alcohol intake, both of which are things that women can modify by changing their behaviour.”