Breast Cancer & Genetics: A Conversation With A Cancer Genetic Counselor About Angelina Jolie & What You Can Do To Protect Yourself

Angelina Jolie: Mastectomy
angelina jolie breast cancer
Angelina Jolie reveals she's had a preventative double mastectomy. Read More »
Celeb Breast Cancer Survivors
Celebrity women who have survived breast cancer. Read More »
Breast Cancer Blessing
How I turned my breast cancer into a blessing. Read More »
angelina jolie double mastectomy

In the wake of Angelina Jolie’s stunning double mastectomy news, we wanted to speak with a genetic counselor to find out a little bit more about how Angelina Jolieand so many other women — came to the decision to have a preventative double mastectomy done. Jolie came to the decision after finding out that she had a mutation in her BRCA1 gene, which greatly increases the likelihood of breast cancer in women. The two complicit genes — BRCA1 and BRCA2 were first discovered by researchers in the early 90s, who identified them as the root cause of a genetic predisposition to hereditary breast and ovarian cancers. According to researchers, hereditary cancer accounts for between 3 and 5 percent of all cases of breast and ovarian cancers, which sounds like a small number, but actually amounts to tens of thousands of cases a year.

To find out more about these genes, the tests that detect them, and the difficult decision Angelina Jolie and so many other women make to prevent breast cancer, we spoke with Gina Nuccio, a genetic counselor at Baptist Memorial Health Care, a hospital in Memphis, Tennessee.

Me: So can you tell us first off, about the genetic test that Angelina Jolie had?

Gina: From what I can gather from the articles I’ve read, she had a blood test to see if she had a mutation in her BRCA genes. What I DON’T know is if she already knew this was in her family (ie, if someone else in her family had already tested positive and she was getting testing to confirm it for herself), or if she was the first person in her family to be tested due to the history with her mom [actress  Marcheline Bertrand, who died from ovarian cancer]. There are actually two genes that typically get tested: BRCA1 and BRCA2. Both can be tested via a blood test, or through a mouthwash kit where you swish around with some mouthwash and spit in this tube, and they can actually isolate DNA from those cheek cells.

Me: And are these tests covered by insurance? If you’re not insured, about how much might they cost you?

Gina: Typically, insurance companies do cover the cost of the testing if you and/or your family meet certain criteria. If they’re not covered, or you don’t have insurance, then the full testing is about $3,800

Me: I think a lot of women sort of put their head in the sand when it comes to this stuff and pretend that it’s not happening.

Gina: Yeah, but that’s the great thing about this type of testing: you can actually empower yourself to make decisions that could save your life. Many people find that very liberating.

Me: When should someone get tested for these genes?

Gina: Well, they should consider getting tested if a mutation has already been found in the family, or if they themselves had breast cancer at an early age (typically before age 50), or ovarian cancer at any age.

Me: And that’s sort of where you, as a cancer genetic counselor come in.

Gina: Yes, that’s the beauty of seeing a genetics professional: they can take a detailed personal and family history and help educate a person on the likelihood of a mutation being present in the family. I have my masters in genetic counseling (there are about 25-30 programs in the country). We are trained to take detailed family histories, examine medical records, and use our clinical judgment to decide what’s the chance there is a gene mutation ina family. We are also trained on how to counsel people about this information.

Me: In a way, you act as the intermediary between the hard genetic science and the patient.

Gina: I think of it as being trained on how to explain the science to people so that it makes sense to them, and also addressing psychosocial issues that arise.

Me: Let’s talk about the psychosocial issues. I think that’s why a lot of people take the tack of “not wanting to know” — it makes them feel as though their bodies are some kind of “ticking timebomb.”

Gina: Yes, it can feel that way. I always like to remind people that if you have one of these mutations, it’s not an absolute certainty that you’ll get cancer, it’s just a much higher chance. And there are things you can do about it! If you opt not to get a double mastectomy, you can do mammograms and breast MRIs at early ages and more frequently.

Me: How prevalent is this mutation?

Gina: It depends on your ethnic background. If a person is of Ashkenazi Jewish ancestry (Eastern European), studies show 2.3 percent of Ashkenazi Jews carry one of these mutations. It’s lower among other groups. [ED NOTE: Oh yay, that's me.] According to the National Cancer Institute, you should get tested if:

  • two first-degree relatives (mother, daughter, or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger;
  • three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis;
  • a combination of first- and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person);
  • a first-degree relative with cancer diagnosed in both breasts (bilateral breast cancer);
  • a combination of two or more first- or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis;
  • a first- or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis; and
  • breast cancer diagnosed in a male relative.

Me: So there’s the genetic side, but generally speaking, how big of a role does stuff like diet, exercise and environment play against genetics?

Gina: That’s a big question that a TON of research is going into right now. Some things, like lung cancer, we have a really good sense of certain environmental exposures (cigarette smoke, asbestos exposure, etc.). We’re not really there yet with breast and ovarian cancer. Some studies show that certain pesticides may moderately increase risk, but as far as diet, there’s no magic formula (unfortunately).

There’s actually a really big study going on right now funded by the American cancer society that’s following a bunch of people for a long time –  like 30 years — and asking them all types of questions about diet and exercise and lifestyle. Hopefully some stuff will come out of that.

Me: What do you think of Angelina Jolie’s decision to get a double mastectomy?

Gina: It’s a really personal decision. Obviously, it reduces your risk the most that you can for breast cancer by more than 90 percent. But, not all women want to do that, and that’s okay

Me: For women who don’t want to do that, what’s the alternative?

Gina: If women decide not to do that, then they have mammogram and breast MRI annually, beginning at age 25. And you get screened very frequently.

Me: What would be your advice to women out there who aren’t sure if they carry the gene?

Gina: In general, I would say that the cheesy old adage “knowledge is power” really applies in this case. even if you don’t get testing, it’s always a good idea to learn about what runs in your family. It’s so important to know because, especially in this case, there ARE things you can do to manage your health better, even if it’s a bit scary.

Contact the author of this post at julie@thefrisky.com or follow her on Twitter @havethehabit.

Posted Under: , , ,
  • Zergnet: Simply Irresistible

  • HowAboutWe

  • afc-right-ad

  • Popular
  • afc-right-ad-2

  • We’re Loving