Panel on BRCA genes in La Jolla explains cancer risks

When 27-year-old San Diego resident Sarah Abelsohn was six months old, her mother was diagnosed with breast cancer. For more than two decades, her mother battled the cancer; she watched it disappear and then return, had a single and then double mastectomy, and ultimately, she succumbed to the disease six years ago.

Abelsohn’s mother’s cancer came from a mutation in one of her BRCA genes, a term thrust into the public spotlight when actress Angelina Jolie announced she carried a mutation in the BRCA 1 gene and had undergone a preventative double mastectomy, followed by removal of her ovaries two years later, to decrease her risk of developing breast cancer.

“I feel like I was born into the world of breast cancer,” Abelsohn said at the Jewish Community Center’s forum on BRCA genes, July 17. “My mother fought very hard and very strongly. She was a remarkable woman for so many reasons. For me, getting tested for BRCA mutations was a no-brainer. Going through what I saw her go through, I wanted to know what my future held. It felt like the power was in my hands. I got tested when I was 20 years old, and I was indeed BRCA 2 (mutation) positive.”

Abelsohn underwent a preventative mastectomy and shared her story as part of a panel of experts designed to educate the community about the realities of BRCA 1 and BRCA 2 mutations.

Moderated by author and journalist Jill Werman Harris, the panel included Basser Center for BRCA executive director Susan Domchek, Abelsohn, Scripps Hospital Surgical Associates founder Paul Hyde, La Jolla IVF founder and medical director David Smotrich, and UC San Diego’s Moores Cancer Center family center genetics program director Lisa Madlensky.

Domchek opened by explaining that everyone carries the BRCA 1 and BRCA 2 genes, and that a mutation in these genes can increase the likelihood of certain cancers.

“BRCA 1 and BRCA 2 repair damaged DNA … and you can damage DNA in your day-to-day life, but there are repair mechanisms in the cell that take care of that and you can move on. But if you’re born with one bad copy of BRCA 1 or 2, and we call that a mutation, it means that gene will not make functional proteins. That increases the risk of developing cancer quite dramatically,” she said.

Cancers that are associated with BRCA 1 and 2 include breast cancer (BRCA, Domchek said, actually stands for BReast CAncer) in men and women, melanoma, prostate and pancreatic. Women who carry mutations in BRCA genes have an up to 75 percent lifetime risk of developing breast cancer and up to a 50 percent lifetime risk of developing ovarian cancer. In actress Jolie’s case, her doctors estimated she had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, she wrote in an essay for The New York Times.

The range of those who carry a BRCA mutation is 1 in 500 to 1 in 800, but in those with Ashkenazi Jewish ancestry, the risk is as high as 1 in 40.

Madlensky added one of the most common questions she gets in the genetic counseling clinic is about the risks in different populations. “Many studies have repeatedly found the same rate — about 1 in 40 — people with Jewish ancestry, which is 10-fold more common than in the general population,” she said.

As such, the testing process is more elaborate.

In men, the prostate cancer associated with a BRCA 2 mutation is the kind that Domchek said men die of, not that they die with. “It is a big difference compared to the prostate cancer of the general population. If you have a BRCA 2 mutation, you need to be screened for prostate cancer,” she said.

Who else should get screened? Panelists advised screening if you, or a family member, has had: breast cancer at age 50 or younger; triple negative breast cancer at age 60 or younger; ovarian or fallopian tube cancer at any age; more than one breast cancer diagnosis; breast, ovarian or pancreatic cancer and are of Ashkenazi Jewish ancestry; a known mutation in a cancer risk gene; breast, ovarian, pancreatic or high grade prostate diagnosed in multiple individuals on the same side of the family. Screening is considered that much more important because there is a 50 percent chance of inheriting a mutation from either parent.

However, Domchek advocates for genetic testing in labs, rather than through at-home kits such as 23-and-Me, or reviewing the results without the assistance of a medical professional with knowledge of how to read the results.

Other topics included when to talk to children about BRCA in family histories, the role of IVF in the genetic screening process, graphic specifics about the breast reconstruction process and more.

As to where to go once the diagnoses is made, Domchek said treatment options are improving, but still have a ways to go: “For ovarian cancer, there are not a lot of options except for preventative removal, right now. For breast cancer, preventative breast removal absolutely reduces breast cancer the most effectively, however, women can choose breast MRI and mammography (to monitor). There are different things to consider for BRCA 1 and BRCA 2, but we want better than just surgeries.”

She explained there are preventative approaches (including an early-stage vaccine in the works) and drugs being used in treatment trials that might also work in prevention.

—Learn more about the Basser Center for BRCA at basser.org and about JCC programs at lfjcc.org

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