An international collaborative research group has confirmed a common gene variant associated with breast cancer that actually reduces the risk of disease by up to 10%.
The gene, known as Caspase 8, is carried by every person but different people have different forms of the gene, known as variants.
According to the study, 25% of people of European descent carry the variant of Caspase 8 which reduces their risk of breast cancer.
Dr Georgia Chenevix-Trench, from the Queensland Institute of Medical Research (QIMR), who led the Australian group in collaboration with the Australian Breast Cancer Family Study and Kathleen Cuningham Foundation for Research into Familial Breast Cancer, says that whilst this discovery will not have direct implications for women with breast cancer now, it will help scientists further understand the role of Caspase 8 and the genetic pathways involved in breast cancer.
“This type of variant was hard to identify, requiring very large studies that can only be achieved by collaboration, both between research centres and between scientists and doctors,” Dr Chenevix-Trench said.
“Research efforts around the world over the past 5 to 10 years have been largely unsuccessful in identifying common breast cancer gene variants until now.
“These results show what can be achieved with international collaboration and will pave the way for further collaborations so that more of these variants can be identified.”
Breast cancer is the most common cancer of females in Australia, occurring in 1 in 12 women and resulting in 2,500 deaths each year.
It has been more than 10 years since the first breast cancer genes, BRCA1 and BRCA2, were discovered and five years since QIMR discovered that another gene, called ATM, occasionally causes familial breast cancer.
Since then researchers have been trying to find the more common breast cancer gene variants, with little success until now.
“We now hope this research will help us design cancer treatments targeted at these pathways,” Dr Chenevix-Trench said.
The study is published in the journal Nature Genetics.