Israeli researchers at Hadassah Medical Center have developed a test that can predict if healthy women are at a significant risk of developing breast or ovarian cancer. Using a blood test, the researchers were able to identify the presence of a harmful mutation, which may trigger those types of cancers in women.
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The researchers, led by Dr. Asher Salmon, then Senior Oncologist at Hadassah, developed the test that is able to predict the presence of harmful BRCA1 and BRCA2 mutations in otherwise healthy women using a novel technology called gene expression profiling.
Women with a mutation in their BRCA1 or BRCA2 gene have a significantly increased risk for developing breast or ovarian cancer. For many of those at risk, the disease may develop at an early age.
“This novel technology aims to provide a layer of information regarding the cell functionality aspect of BRCA mutations that could greatly enhance the doctor’s ability to identify high-risk carriers,” explains Dr. Salmon. With gene expression profiling, researchers can search for genes that have the potential to distinguish healthy BRCA1 and BRCA2 mutation carriers from noncarriers.
Requires less resources, gives more accurate results
Up until now, the only means of detecting such mutations was by doing a full gene sequencing. However, Salmon says that it isn’t always efficient. According to him, the process is “expensive, time consuming and, in many cases, lacks clear and decisive information for making a clinical decision.”
The researchers found that when exposed to radiation, the BRCA1 or BRCA2 genes display a distinct gene expression profile. Using a comparative process, the researchers were able to flag 18 specific genes that differentiated between healthy women and those at risk of developing the mutation. Once the experiment was completed, the researchers validated their results, achieving 95 percent accuracy.
According to Salmon, the test can reveal many different types of harmful mutations. “In societies where gene sequencing is not feasible, this test can substitute for it with a very high accuracy rate,” Salmon explains.
The financial potential of the discovery was not lost on Hadassah. Hadasit, the center’s technology transfer arm, identified the economic and scientific potential of this new development, protected it with a patent, and commercialized it to Biogene, a daughter company of Micromedic, which is working on developing a diagnostics kit based on the research.
The Israeli research team – which included Prof. Tamar Peretz, Director of Hadassah’s Sharrett Institute of Oncology, and physicians from Tel Hashomer Hospital, Bar Ilan University, Barzilai Medical Center, and Ariel University Center – reported their findings in Cancer Prevention Research, a journal of the American Association for Cancer Research.
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