BRCA Expert Dr. Karen Lu Discusses Prevention, Medical Misconceptions And What's In The Works [Exclusive Interview]

A woman's lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a mutation in BRCA1 or BRCA2, according to the National Cancer Institute.

Dr. Karen Lu. M.D., professor of Gynecologic Oncology, co-director for Clinical Cancer Genetics, and director of the High Risk Ovarian Cancer Screening Clinic at The University of Texas MD Anderson Cancer Center discussed just what having these mutations can mean for women today by looking at genetic testing and the medical progress that's currently being made.

Angelina Jolie's recent announcement of a double mastectomy for her BRCA1 mutation has brought preventive measures into the limelight that could dramatically decrease the risk of ovarian and breast cancer risk for women carrying these genetic mutations, according to Dr. Lu, who first became interested in the biology of inherited ovarian cancer back when BRCA1 and BRCA2 were discovered in the mid-90s.

Science World Report caught up with Dr. Lu to learn more about the specifics of these mutations, the benefits and complications to preventative surgeries and what's on the horizon for future treatments.

Angelina was brave for having a double mastectomy and speaking out about her health. But are these kind of surgeries always right for everyone with a BRCA1 or BRCA2 mutation?

What they're really praising her for is speaking out and becoming public as someone who's been identified as having a BRCA mutation. It is a growing number of women, and they're very interesting because they don't have cancer but we know that they're at very high risk for developing cancer.

The first 10 years after BRCA1 and BRCA2 were discovered, most of the women who got genetic testing were young breast cancer patients. It's only been in the last decade that we've seen a growing number of women who've never had cancer before and are having to face these really life-changing options that have both a very positive outcome but that also have very serious side-effects.

If you're a young woman and you've seen your mother develop breast cancer and die of ovarian cancer, and you've seen multiple other female relatives in your family who have died of breast or ovarian cancer, then the opportunity to do a surgery that will prevent that cancer and will allow you to live a life without that cancer is very compelling. But there are significant side-effects that can change your quality of life.

Your second question was is this for everyone. So I would say the important thing is that for women that have the BRCA1 and BRCA2 mutation, that these are very standard recommendations. Not always the breast part, but the ovarian part. Because ovarian cancer is so deadly, because there's no effective screening for ovarian cancer, the recommendation is, and I guess as a third thing, that we have good data to support it.

Having your fallopian tubes and ovaries surgically removed between the ages of 35-40 for BRCA1 and between the ages of 40-45 for BRCA2 is a uniformly accepted standard of care for women who carry those genetic mutations. And we know that it can prolong their life.

What do you tell patients who are believe that this will cure them?

That's a great question. I would say two things about that. One is that having a gene mutation allows us to create a management structure for a woman throughout her life. When a woman's in her 20s, we want her to have good screenings for breast cancer. When a woman's in her 30s, that's when we start to talk to them about ovarian cancer risk reduction. We'll talk to women about the oral contraceptive pill and how it can reduce the risk of ovarian cancer by 50 percent.

So really, we want to come up with a management strategy for her in her 20s, in her 30s, in her 40s. So it's not like you have a mutation and we start talking to you about surgery immediately. I think that's not the right approach. I think the approach is to say that this is very empowering information and we're going to work with you to come up with a management strategy that makes sense medically but that also reflects where you are in life.

Should everyone have genetic testing?

The testing is most powerful when the cancer patient undergoes the testing first and a mutation is identified in a cancer patient first. Because if you look at all ovarian cancer patients, right now the recommendation is that all ovarian cancer patients should undergo BRCA testing.

About 15 percent of women with ovarian cancer will have a BRCA1 or BRCA2 mutation. Once a mutation has been identified in a woman with ovarian or breast cancer, their family members can test for the specific family mutation. Sometimes the family member with cancer has died, and so genetic testing cannot be done. Therefore, it is also appropriate to have genetic testing performed on women who do not have cancer but have a family history of cancer.

So your likelihood of picking up someone who has a mutation is extremely high. And then, once you've identified the mutation, then all of their family members can get tested. And that's called CASCADE Testing.

Are there any misconceptions about breast/ovarian cancers being on the mother's side alone and risk?

It's a misconception. It has an equal chance of coming through the father's side. So if the father's sister or the father's mother has a mutation, then it can come through the father as well.

What do you see in the future for prevention and treatment?

In the past five years, there's increasing evidence that the ovarian cancer in women who have BRCA mutations actually first starts in the fallopian tube. So we're doing a clinical trial in which a two-stage approach is used that takes their fallopian tubes out first after they've completed child-bearing and then delaying the ovaries being removed allows them to have natural hormones for a longer period of time. However, the biggest downside to having your ovaries removed is that you go into menopause 10 years before you would have otherwise.

It's important to educate both care doctors and patients and women with these mutations. We really reassure them that they can have children and that the surgery recommendation is between 35 to 40 for BRCA1 and 40 to 45 for BRCA2. But we believe that more research needs to be done because right now, even though the surgical removal of ovaries and fallopian tubes and the surgical removal of breasts are the most effective prevention techniques, we still believe that we need to do better in coming up with alternatives for women that are equally effective.

Can you tell me more about the two mutations and the difference between them?

They both have very similar high risks of breast cancer at about between 60 to 80 percent lifetime risks. For differences in the ovarian cancer risks, BRCA1 has a higher ovarian cancer lifetime risk at about 20 to 40 percent. Where BRCA2 is 15 to 25 percent. The other difference is that the ovarian cancer with BRCA1 cancer tends to occur at a younger age at about 10 years earlier than with non-BRCA carriers. And with BRCA2, the average age is more similar to non-BRCA carriers.

What would you say to critics who say preemptive removal may not be good? Or is there any information that suggests that statistics do not back up surgery?

Statistics and studies are very much in favor of removal of the fallopian tubes and ovaries in women who have known BRCA mutations. We know that it dramatically decreases the risk of developing ovarian cancer, but when you also factor in ovarian cancer risk as well as other effects like osteoporosis, increased risk of heart disease, etc. When you factor in everything together, the studies show that removing the ovaries and fallopian tubes at a younger age still prolongs life in women who have mutations.

In the critics who say it might not be good, I would say that from a medical opinion, the data is absolutely in support of removal of the ovaries. But the decision to have surgery is not just medical, but also factoring in all of the pros and cons. And so, that's where having that information and really educating all of our patients really hinges on the risks and the benefits.