What is Jolie Gene test? New breakthrough could drastically change cancer treatment

RELATED ARTICLES

Women who use talcum powder may not be at risk of getting ovarian cancer, finds study

Shedding weight may help women over 50 reverse their risks of breast cancer: study

The research into the 'Jolie gene' was led by Dr. Beth Karlan, a professor at the University of California, Los Angeles who incidentally also cared for Jolie's mother Marcheline Bertrand. "Having cared for Angelina Jolie's mother, I just wanted Angelina to be around to see her children grow up," she said about the study. Of course, the study is far from done, and it could still be years before women can get the Jolie gene test, but the latest breakthrough does offer significant hope.

What is the Jolie gene test?

Mutations in the BRCA1 and BRCA2 genes impair the body's ability to repair damage to DNA, which greatly increases the risk of cancer. Because of the mutations, chances for women to get ovarian cancer jump from 2% to as much as 60%, and from 12.5% to as much as 90% for breast cancer. To date, the only way to avoid getting these cancers was preventive surgery like Jolie did nearly a decade ago.

But, with the Jolie gene test, doctors could determine if the mutations are present in the cells, thereby indicating if the individual is highly likely to develop cancer or not. The first step is to understand how the mutation develops, which is what Karlan and her team have done. They grew mini fallopian tubes using cells from the blood of women who have had cancer, and then observed the development of cancer in the lab.

The next step is to grow fallopian tubes in the lab, from women who have the mutated genes but have not yet developed cancer. Doing so will allow scientists to understand what exactly causes the mutation to lead to cancer. Understanding that will allow scientists to develop drugs or interventions that precisely target the faulty genes, possibly eliminating them from causing cancers in the first place.

"That could help women like Angelina Jolie make very important decisions, or lead to drugs which can block proteins or cellular processes which lead to ovarian cancer,"  noted Dr. Clive Svendsen, from the US-based Cedars-Sinai Board of Governors Regenerative Medicine Institute, the co-lead of the study. In the future, a simple test could determine if a woman has a faulty BRCA1 gene, and is likely to develop cancer, and then be given a drug to simply prevent it from occurring. Doing so would eliminate millions of preventive surgeries, and help keep women in the workforce without fears about their health.