Austrian researchers discover potential breakthrough in genetic breast cancer treatment

Researchers at the Austrian Institute of Molecular Biotechnology (IMBA) in Vienna have made a potential breakthrough discovery that could aid in the prevention of genetically-determined breast cancer.

The team, which conducted the research in collaboration with colleagues from the University of Maryland School of Medicine, found that this form of breast cancer could largely be prevented by blocking a bone gene, the IMBA said in a press release Tuesday.

The institute said this variant of breast cancer is caused by a mutation in the BRCA1 gene, with American actress Angelina Jolie among the more well-known carriers of a "faulty" form of this gene.

Women with this mutation have an up to 87 percent risk of developing breast cancer over their lifetime, Jolie having notably undergone a double mastectomy procedure for this very reason.

The Vienna-based team had in 2010 already shown that sex hormones could trigger breast cancer through proteins called RANKL and their receptor RANK, which are key factors in bone metabolism.

Both are part of the normal process in providing breast cells with signals to tell them to grow. When they become deregulated, breast cells start to divide and multiply and fail to die as they should, ultimately resulting in breast cancer.

The researchers have discovered that blocking the RANKL and RANK system in mice with the mutant BRCA1 gene led to largely normal mammary glands, as opposed to invasive carcinomas found in the control group.

Applying the findings to humans, the researchers noticed that in women who had undergone a preventative mastectomy, RANKL inhibition led to a significant reduction in the growth and spreading of breast tissue cells.

Through the international CIMBA consortium for evaluating the potential genetic modifiers of cancer risk, which maps over 23,000 women, it was also found that genetic variants in the RANK gene are associated with higher risk of the development of cancer in women who carry BRCA1 and also BRCA2 mutations.

Phase III clinical trials are now required to confirm efficacy in humans, the IMBA stated. Endit