akronchildrens.org

A clinical geneticist applauds Angelina Jolie’s candor (Video)

Actress Angelina Jolie revealed May 13 in the New York Times that she quietly had a preventive double mastectomy after a genetic test showed she carries a mutation in the hereditary breast/ovarian cancer gene BRCA1.

Doctors told Jolie that she had an 87 percent lifetime risk of breast cancer and a 50 percent risk of ovarian cancer.

The actress’ mother had fought ovarian cancer for almost a decade before dying at age 56.

“I wanted to write this to tell other women that the decision to have a mastectomy was not easy,” Jolie wrote. “But it is one I am very happy that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don’t need to fear they will lose me to breast cancer.”

Jolie was widely praised for her courage in sharing her story and many cancer experts believe it will start conversations – among family members and between patients and doctors – and will draw attention to the valuable role of genetic testing and counseling.

I talked to Dr. Catherine Ward Melver, a medical geneticist in Akron Children’s Genetic Center, about Jolie’s revelation and what it might mean for other women.

What did you think when you heard the news about Angelina Jolie?

Dr. Catherine Ward-Melver

Dr. Catherine Ward-Melver

There have been other celebrities and famous women who have spoken openly and honestly about breast cancer, but this immediately became one of the top news stories of the day given Ms. Jolie’s status as one of Hollywood’s leading actresses, a worldwide celebrity and an icon of femininity.

I think it’s wonderful that she decided to speak out and her story, quite frankly, is not very different than the patients we see every day. Her concerns mirror the concerns of the mothers, daughters, aunts and sisters who come to us for hereditary cancer testing and counseling.

What makes someone a candidate for BRCA1 and BRCA2 testing?

You may be at risk if you have a personal or family history (on the mother’s or father’s side) of the following:

  • If you or anyone in your family has had breast cancer before the age of 45, or before menopause
  • Multiple people with breast and/or ovarian cancers on the same side of the family
  • Multiple primary breast and/or ovarian cancers in the same individual

Male breast cancer also raises suspicion as it is so much more rare in the general population. Certain ethnicities, such as Ashkenazi Jews, are also at higher risk.

It all starts with knowing your family history

Every family is different. Generalities, such as when people say, “I have a lot of cancer on both sides of my family,” need to be sorted out. We need to look closely when we see several relatives with cancer on one side or the other.

Men can carry and pass on these gene changes, so those branches of the family tree should not be overlooked.

People are more open when talking about cancer today than they were in, say, the 1950s or earlier. Back then, relatives may have talked about grandma having “a female cancer” or something like that.

Death certificates can be helpful, but keep in mind a death certificate only contains the information the signing physician chooses to put in it.

It’s nice to find that one relative – maybe it’s the aunt who knows everyone’s business – to be the health historian for the family.

There are several tools to help compile a family health history, including an online tool from the Surgeon General’s office.

What’s involved in getting tested for the BRCA1 and 2 genes?

We bring you in and talk for about an hour about your personal and family medical history, the test, and what’s involved.

Our goal is to be sure that everyone has the necessary information to make an informed decision to be tested.

There’s one company that processes this test for the entire country and they handle the insurance authorization. Most insurance companies cover 90 percent or more of the cost (about $3,000), but the laboratory informs patients before starting the test if their out-of pocket cost is over $375.

There are payment plans and programs to help cover the costs of the test if you don’t have coverage.

The results come back in about 3 weeks and we meet with you again to talk about what it all means, your options to reduce your risk, and to answer any and all questions you may have.

Keep in mind that a negative result for BRCA1 and 2 does not mean you have the same risk as the general population, so risk-reduction strategies may still be appropriate based on family history.

Testing for hereditary cancer is a very personal decision.

Since the risk-reduction strategies for carriers of the BRCA1 and BRCA2 genes begin in adulthood, children should not be tested until they are 18 and can make their own informed decisions about whether and when to be tested.

What can be done to reduce cancer risks?

Women who carry mutations in the BRCA1 and BRCA 2 genes have several options available to reduce their risk of breast and ovarian cancer.

The first of these is increased breast cancer screenings, such as breast self exams, mammograms (recommended starting at age 25 instead of age 40 for the general population), and MRIs of the breast.

As in Jolie’s case, many women choose prophylactic surgeries including bilateral mastectomies and oophorectomies (removal of the ovaries).

While the decision to have a preventive mastectomy is not easy, it can give increased peace of mind. It helps to know you have options to reduce your risk.

Do you expect more phone calls, questions and referrals as a result of Jolie’s announcement?

We always welcome this type of discussion and awareness. She must have felt it was important to get this information out there and I applaud her decision.

Learn more about Akron Children’s Hereditary Cancer Program.

Related video:

Lisa Owens was stunned when her cousin was diagnosed with stage 4 breast cancer, but the situation took a more personal turn when genetic testing revealed that she and her mother, Sherrl Wenzel, carried the gene that increased their risk of contracting ovarian or breast cancer from less than 1 percent to 94 percent.

Lisa and Sherrl share their story in this video.

Facebook Comments

Speak Your Mind