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PARTICIPANTS Linda T. Vahdat, MD New York Presbyterian Medical Center Gladys Rosenthal MS, CGC Strang Cancer Prevention Center

On our webcast we are going to be discussing genetic testing for breast cancer. How it works, who should do it, what it's limitation are.

With me our two experts. Dr. Linda Vahdat from New York Presbyterian Hospital, Columbia campus, and genetics counselor, Gladys Rosenthal, from the Strang Cancer Prevention Center at Cornell. Welcome, ladies. Thank you for joining us.

: Thank you.

MICHELLE LAMOTHE, MD: Breast cancer screening. What does screening mean to you, Doctor?

LINDA VAHDAT, MD: Breast cancer screening is essentially mammographies, baseline between 35 and 40, and then yearly from 40 thereafter, as well as a clinical breast exam, as well as monthly self-monthly breast exam. That's screening.

MICHELLE LAMOTHE, MD: I agree that's screening.

So what we're really talking about is breast cancer testing. Gladys, can you tell us a little bit about what testing means?

GLADYS ROSENTHAL, MS: Yes, there are two genes: BRCA-1 for Breast Cancer gene #1, BRCA-2 for Breast Cancer gene #2 -- that are associated with an increased risk of breast cancer. We each have two of these genes. One inherited from our mother; one inherited from our father. The genes themselves are involved in looking at cells to see that if genetic errors occur, they are either corrected or the cell stops dividing. If there is a change in one of these genes -- either the BRCA-1 or the BRCA-2, a change called a mutation, this process is compromised and the risk for breast cancer and ovarian cancer increases.

MICHELLE LAMOTHE, MD: So that's what we're looking for.

GLADYS ROSENTHAL, MS: That's what we're looking for.

MICHELLE LAMOTHE, MD: We're looking for that change, that mutation.

Linda, who should be tested?

LINDA VAHDAT, MD: I think -- I don't think everybody should be tested. I think testing is a consideration, specifically if you think that obtaining a positive result, finding that you have a mutation is going to change your behavior. Certainly whether or not someone has a mutation or not, they should follow the standard screening guidelines, which we just outlined in terms of breast exam and mammography.

If somebody has a positive family history of breast cancer, either with a first-degree relative bilateral breast cancer --

MICHELLE LAMOTHE, MD: Excuse me, tell us more about what that would mean. How somebody, how a woman would know that she does have a positive family history? What should she be looking at?

LINDA VAHDAT, MD: If people have the onset of breast or ovarian cancer at a young age, less than 50, specifically or early 50s, that's usually considered a positive family history -- specifically because these are diseases which happen in older women. Breast cancer as well as ovarian cancer -- the biggest risk factor is increasing age.

If someone in the family has bilateral breast cancer, specifically close relatives -- what we call first-degree relatives, a mother --

MICHELLE LAMOTHE, MD: Who are they? I'm sorry.

LINDA VAHDAT, MD: A mother, a sister. I find many patients come to me -- well, there is breast cancer in my father's side, that doesn't count. Well, that's a fallacy. I'm certain that Gladys can tell you.

MICHELLE LAMOTHE, MD: Yes, Gladys, what about our father's side?

GLADYS ROSENTHAL, MS: Since half our genes come from our mother and half from our father, if there is a mutation in one of these genes, half the time it will come from the father's side statistically and half the time it will come from the mother's side. So that when you look at your family history, you need to look at both sides of the family. You want to know specifically if you can, as well as you can, what kind of cancer, at what age the cancer developed. We assess the risk from the family history. It would be difficult I think for an individual to assess risk. I think that if it is a very heavy family history, it's not difficult. But there are people who have mutations with somewhat weaker family histories. I believe at that time, that if you have any suspicion or if you have any fear that there is something going on in your family, you should consult with a health professional.

MICHELLE LAMOTHE, MD: So the first thing that a woman should do is look at her family history, on both her mother's side and her father's side to see if there are cancers. Then she comes to a physician like Linda and says, "Should I be tested?"

LINDA VAHDAT, MD: Usually what will happen is that they'll first go to their primary care physician or go to their OB-GYN and talk to them about it. Then they'll get a recommendation -- usually to go to someone like Gladys, who is a genetics counselor.

Usually they will only come to me if they already have cancer or they have a family member with cancer.

MICHELLE LAMOTHE, MD: Then I'm going to go back to Gladys for just a quick question, if I may? What is the test? How is it done?

GLADYS ROSENTHAL, MS: It's a process. You can't think of it as a test alone. It's not a simple blood test. First thing is to take a complete family history and assess risk from the family history. You also want to know and this is very important, what does the individual want to do with the results? This test is not for everyone.

You have to explain what this test can tell you and what this test cannot tell you.

MICHELLE LAMOTHE, MD: These are the limitations.

GLADYS ROSENTHAL, MS: These are the limitations.

MICHELLE LAMOTHE, MD: And there are important limitations to testing. Linda, can you address a little bit more about the limitations of testing?

LINDA VAHDAT, MD: Certainly. If a patient has a positive test, it's been well documented in the literature that their risk of developing breast cancer is not 100%. It's probably higher than the general population clearly. But it ranges somewhere between 50% to 87%.

MICHELLE LAMOTHE, MD: So it's not just -- it's your fate.

LINDA VAHDAT, MD: Exactly. There are many factors which sort of come to the sum total of the development of breast cancer. It's multifactorial. That's the term we use. So there are lots of different things which contribute to this process. Probably having a mutation in BRCA-1, BRCA-2 or some of the other mutations is part of the picture.

Now if someone has a negative test and they have family history of breast cancer, a negative test doesn't mean anything. It probably just means that if there is a genetic susceptibility, it hasn't been identified yet. So people shouldn't feel that they're free and clear because remember it's a packaged deal. There are lots of different factors.

MICHELLE LAMOTHE, MD: It sounds like there are a lot of questions here also for a woman and her family to really deliberate about. It could go lots of different ways and it doesn't mean then that just having a test assures you of one known outcome. Is that correct?

LINDA VAHDAT, MD: Exactly.

MICHELLE LAMOTHE, MD: The test itself though, Gladys, after you've gone through the genetic counseling, it is a blood test, is it not?

GLADYS ROSENTHAL, MS: It is. I really have to say that it's very important that you have an informed decision to make an informed consent about the test.

MICHELLE LAMOTHE, MD: To know all of the different issues.

GLADYS ROSENTHAL, MS: You have to know all of the issues that surround this kind of testing. It's something that is an easy decision for some women. And for other women it's a very, very difficult decision. The important thing is that no one should be coerced into making a decision to test. The decision should be the decision that the woman is most comfortable with. You can always defer testing, come back to it, and it's not something that you should enter into because you feel somebody wants you to do it -- including your doctor, the genetic counselor, or your sister or your daughter.

MICHELLE LAMOTHE, MD: It sounds as if a woman has to be ready, completely ready to make this decision on her own when she comes to this testing.

Linda, can you share with us though, after a woman may have tested positive? Apparently there are many different things that may happen when a woman may get this information. Can you share with us some of your patient stories?

LINDA VAHDAT, MD: I have quite a few actually. The one that comes to mind, a very interesting story is of a young woman whom I treated several years ago. She is fine. Comes to me in follow-up. But when she was first diagnosed with breast cancer she was 23 years old. Irish extraction. Mother had died of breast cancer very early. Very strong family history, about two or three first-degree relatives who had breast cancer

So we did genetic testing and she had the Askanazy-Jewish mutation and actually turned out that there was an aunt -- long, long ago, -- who was actually Askanazy-Jewish. So who knows maybe it came from her? Maybe it didn't -- in this Irish family.

But this patient, she is a health care professional opted not to do prophylactic surgery which, of course, was one of her options. Very interestingly none of her very extended family opted to do any genetic testing whatsoever.

MICHELLE LAMOTHE, MD: In this case, she was tested positive, but rather than having a mastectomy or any other procedures -- not only she herself, but her family members decided that she would live with the information.

LINDA VAHDAT, MD: They took it in stride.

MICHELLE LAMOTHE, MD: Well, thank you very much. I think that we've learned a lot and I think you very much for guiding us to understanding more about genetics, breast cancer and testing. Thank you.