Individual Knowledge Is Power in Addressing BRCA Gene Mutations


As costs decrease, and physicians move to address barriers to genetic testing, a panel of physicians, researchers and a patient advocate highlighted the importance for people to get tested.

The need for men and women to undergo genetic testing for BRCA gene mutations is important now, more than ever. As costs decrease, and physicians move to address barriers to genetic testing, a panel of physicians, researchers and a patient advocate highlighted the importance for people to get tested.

Award-winning journalist, best-selling author, motivational speak and women’s health and wellness advocate Joan Lunden — who is best known for nearly two decades on Good Morning America — moderated a panel of experts, titled, “Knowledge is Power: Understanding and Managing BRCA-Related Cancer Risk.”

“Tonight is especially meaningful because when it comes to the BRCA gene mutation, if you don’t have the knowledge that you might be a carrier, then you don’t have the power to perhaps save your life,” Lunden said during the panel, held Jan. 25 in New York City.

The panel included Susan M. Domchek, M.D., the Basser Professor in Oncology at the Perelman School of Medicine at the University of Pennsylvania; Mark Robson, M.D., Chief of Breast Medicine Service at Memorial Sloan Kettering Cancer Center; Nicole Schreiber-Agus, Ph.D., Program Director for the Program for Jewish Genetic Health of Yeshiva University/Albert Einstein College of Medicine; and Elizabeth Wurtzel, an American writer and journalist best known for her memoir, “Prozac Nation,” who currently has metastatic breast cancer.

The program, co-presented by the Basser Center for BRCA at Penn Medicine’s Abramson Cancer Center and the UJA-Federation of New York, focused on the latest lifesaving information surrounding BRCA-related cancers and what can be done to mitigate risks.

The panel discussed the risks associated between the BRCA gene and cancers including breast, ovarian, prostate, pancreatic and melanoma, as well as its presence among the Ashkenazi Jewish population.

When BRCA genes — which stands for BReast CAncer susceptibility gene – are functioning normally, they help the body prevent cancer. However, they can also become markers of higher risk for cancer when they are mutated.

“We all have these genes, and these genes in our normal healthy cells help repair DNA damage — a certain type of DNA damage where both of the strands of DNA are broken,” Domchek explained. “So, if you are born with one bad copy of a BRCA mutation, you have an increased risk for developing breast cancer, up to a 50 percent to 70 percent lifetime risk; ovarian cancer, which is a higher risk for BRCA1 than BRCA2 but up to 45 percent; and then particularly for BRCA2 is pancreatic cancer, prostate cancer and melanoma. So, it is really worth knowing if [physicians] have one of these patients.”

Individuals have two copies of the BRCA1 and BRCA2 genes — one from their mother and one from their father. Each germ cell contains one of those, so a child can inherit one of the two.

“If you carry a single mutation, it is present in all the cell of your body, including half of your germ cells,” Robson said. “That can be passed on, a 50/50 chance, to your child. And of note, 50 percent of carriers got the mutation from their fathers. That was something took us a long time to communicate. Because breast and ovarian are the most prominent types of cancer, everyone thought the mutation must come from their mother’s side, and that is not true.”

To address limited knowledge, the panel noted that physicians must take the initiative to ask their patients about family history, all with the hope that this discussion will prompt individuals to want to get tested.

Wurtzel acknowledged this is particularly true for individuals of Ashkenazi Jewish descent. “I had no way of knowing. There was no sign of it. I had no reason to believe I had the BRCA gene other than that I am Ashkenazi Jewish,” she said. “That was the only indication I had. All Ashkenazi Jewish people should be tested. If you are an Ashkenazi Jewish person, you need to be tested. That is how it works. This is not a medical problem, this is a public policy problem.”

Schreiber-Agus agreed, highlighting the increased presence of the BRCA mutation in this population. “When we look at the general population, we see that BRCA carriers, the frequency is about 1 in 400. If we focus specifically on the Ashkenazi Jewish population, the frequency of having a mutation is 1 in 40,” she added. “So, that is 10 times more at risk to carry one of these mutations, and that is because there are three common mutations that run in the Ashkenazi Jewish population that account for about 95 of the BRCA mutations in that population. These are called founder mutations.”

Although barriers to genetic testing still exist, reaching out to populations that appear under-tested and adopting health care policies revolving around patient-physician discussion can also aid these efforts. “We can’t miss the obvious people, and we are missing them now,” Domchek said.

“The way to counsel women is to provide them with the information they need to make their decisions,” Robson added. “…You start with basic information about the different options and you follow their lead to expand that and give them what they need to make these decisions.”

Moving forward, decreases in the cost of genetic testing and the effort to make them more easily accessible to the public will help more individuals to get screened.

“This is a complex issue — it is a medical problem, a policy problem, a protocol problem, an insurance problem, and it is an education problem,” Lunden concluded.

Related Videos
Image of a woman with black hair.
Image of a woman with brown shoulder-length hair in front of a gray background that says CURE.
Sue Friedman in an interview with CURE
Catrina Crutcher in an interview with CURE