Bad Luck Or Bad Genes? Dealing With BRCA And 'A Cancer In The Family'
TERRY GROSS, HOST:
This is FRESH AIR. I'm Terry Gross. If you have a history of cancer in your family, you may be wondering if you should get a genetic test to see if you have any genetic mutations that might predispose you to cancer. My guest has had a lot of experience with that issue, professionally and personally. Dr. Theodora Ross directs the Cancer Genetics Program at the University of Texas Southwestern Medical Center. She is an oncologist who specializes in treating breast cancer, and she directs a research lab focusing on how cancer genes turn normal cells into cancer cells.
In spite of her knowledge and in spite of the history of cancer in her family including her uncle, father, mother, brother and sister, she didn't get tested until she was diagnosed with a melanoma. The melanoma was successfully treated but it scared her into wanting to know if she had the so-called breast cancer gene. After getting tested, she found out she had that gene. We'll hear what she did in response a little later. Dr. Ross has written a book that's part memoir, part medical science, called, "A Cancer In The Family."
Dr. Theodora Ross, welcome to FRESH AIR. So I have never gotten a kind of genetic testing that you've gotten, so I do not know if I'm genetically predisposed to cancer. I'm not sure I want to know. For me it, a little bit of self-deception is probably - (laughter), is maybe a healthy thing. You're an advocate of testing. You direct a cancer genetics program yet you put off getting tested yourself for years in spite of a history of cancer in your family. So why did you put it off for so long?
THEODORA ROSS: I was around the edges of trying to understand my own family's history of cancer. We were in a study by a research institution. I talked to a genetic counselor and asked them if they knew anything. And, it's interesting, they said it was not clearly hereditary in our family, but I changed the words around and told my fiance at the time that it was clearly not hereditary, and we went ahead and got married. But within the first year of getting married, I came down with melanoma, and at that point, I think, was when that denial went away.
And I decided to talk to another friend who was a genetics expert at The Ohio State University, and they evaluated me. I got tested. And I can just say it really changed how I saw things. So I went from this state of constant uncertainty and not knowing to knowing, and it was exhilarating. It was...
GROSS: Exhilarating? Scary is a word that comes to mind for me. (Laughter).
ROSS: It was exhilarating because all of a sudden, we discovered we had a particular mutation, a BRCA1 mutation, going throughout our family that certainly was a contributor to my sister's death and...
GROSS: Your sister died of breast cancer.
ROSS: Breast cancer, yes. In her 30s.
GROSS: So you mentioned you were diagnosed with melanoma before getting genetically tested. That was treated surgically and that...
ROSS: Exactly, it was tiny melanoma. (Laughter).
GROSS: OK so you were done with that, but then you got tested, found out that you tested positive for the so-called breast cancer gene, which also left you predisposed to ovarian cancer. So after getting this information and thinking it through, you decided to have a double mastectomy and to have both of your ovaries removed. How did you reach that decision?
ROSS: Well, once I figured out I had the mutation, it was pretty clear because I think I'd been thinking about it for years. You know, being a doctor, being an oncologist, seeing the data, I'd been thinking about it. So I was already prepared, plus I'd seen my sister go through this and other people in the family go through these things. And so for me, it was an instant decision - I don't want to get that, I don't want to go through that, and the data is really good for that preventing cancer. So it was a pretty quick decision for me. Many patients, it's not. It takes them some time.
GROSS: So you had the surgery done. How long ago was that?
ROSS: That was in 2004. So 12 years ago.
GROSS: So how effective was getting the double mastectomy and the - getting your ovaries removed? How effective was that in diminishing your fear of getting cancer?
ROSS: A hundred percent. (Laughter). I mean, I - of course, I could have a relapse or I could get a new melanoma, if that's caused by this BRCA mutation. I could have cancer, yes. But the reality is, is I probably have a lower risk of breast cancer and ovarian cancer than the general population.
GROSS: So you tried to understand the source of your genetic predisposition to cancer. Your father and your mother had cancer. One of your uncles had cancer. Your sister died of cancer. Your brother had cancer. So - but you were assuming that since Ashkenazi Jews are especially prone to have this genetic predisposition, and since your father is Jewish and your mother not, you assumed that this gene came from your father's side of the family. But in doing your genetic research, you learned something very interesting about your mother's family. What did you learn?
ROSS: Well, yes, it was really quite shocking. So, you know, Mother's always right, as they say. So when we discovered that I had the mutation, we went to visit her. We had Sunday dinner with her and we were talking to her about it and telling her that this came from her late husband's side of the family, certainly, since he was a Jew.
And she said, no, that's not the case. And we said, no, it is the case. And she also didn't get the idea that my brothers each had a 50 percent chance of having this mutation. They hadn't been tested at that time, it was so early in this discovery. And as we were talking, it became clear that as part of this research study we were in, she had received a letter when my father was dying.
He was in hospice and so she kind of filed it away - but, a letter from them saying, we have new information for you. And when I got all the records from them and I'm reading through it, I find that they'd never tested my father. They'd tested my mom, and she was the one -the Polish Catholic - that carried his supposed Ashkenazi Jewish mutation.
GROSS: So what responsibility did you feel to the rest of your family when you found out that you had this gene? 'Cause if it runs in the family, do you have a responsibility to tell, like, you know, nieces and nephews and uncles and aunts and cousins? And, say they don't want to know?
ROSS: Yes, once you find out you've found a mutation, there is a responsibility to inform as many relatives as you can because you can save their life. When I first got the mutation information, I called my uncle - my dad's brother - because remember, he's Jewish and so we thought that's where the mutation was. And he's a psychiatrist and understands medicine.
And he, right away, even though he's Jewish and ultimately we would've found out it hadn't come from his family, he still tested to make sure because he's got four daughters and a son. And he turned it out to be negative, which was really great for them. My mother's side of the family, it's more difficult. We don't know people like my father's side of the family, and one of the hopefully exciting parts of this book will be that they'll read it and they'll find out they have a mutation and save their life.
GROSS: So you are a strong advocate of genetic testing, but not everybody needs to get tested? Like, who should get tested?
ROSS: I think it should start out with looking at your family. And a family history is so important, so hard to get. It's a noble cause to try to get an accurate family history. You'd be surprised how inaccurate our family histories are, including my own. I don't know if my aunt had ovarian cancer, or was it endometrial cancer? Everybody goes back and forth on that, and the records don't exist. But getting that family history is the first step before testing.
And if you find your family history has a strong, you know, component of cancer in it or of some other disease - heart disease or a neurologic disease - seeing a genetic specialist and flushing that out, they help you. They go through each step, they tell you what the issues are and whether or not you're really looking at this right. So it's an objective view. And then they can help you determine whether or not there's a specific gene or set of genes to figure out whether there is a genetic predisposition to your disease, cancer or otherwise.
GROSS: Why do you need to know this before getting tested? I mean, why can't you just give a sample and say, tell me what mutations I have?
ROSS: It's tough because we have 20,000 genes in our genome. We have lots of interspersed sequences. We have a very complex genome. So just sequencing your genome won't help you very much. If you're Ashkenazi Jewish then it is a reasonable thing to consider getting tested for the mutations with that heritage. So there are three BRCA mutations - BRCA1, two of them, and BRCA2, one of them - that are at a high enough frequency in the Ashkenazi Jewish population that screening for those is a reasonable thing. I think it's 1 in 40.
And so those are reasonable getting without any family history - you're Ashkenazi Jewish, I'd test for those three. But in general, just testing people is kind of a random process and so the family history will tell you. And in addition to that, if your family history is, you know, very - there are lots of cancers - like, for example, Angelina Jolie had a BRCA1 mutation, and she had a very strong family history. With that, her risk is higher than somebody who has the same mutation but doesn't have a family history but has a large number of females in it. It's not just the mutation that contributes to the risk, it's also the amount of cancer in the family and how early those cancers occurred.
GROSS: If you're just joining us, my guest is Dr. Theodora Ross. Her new book is called, "A Cancer In The Family: Take Control Of Your Genetic Inheritance." She leads the Cancer Genetics Program at the University of Texas Southwestern Medical Center, and she leads a lab that investigates how cells transform from normal cells to cancer cells. Let's take a short break then we'll talk some more. This is FRESH AIR.
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GROSS: This is FRESH AIR. And if you're just joining us, my guest is Dr. Theodora Ross. She's the author of a new book "A Cancer In The Family: Take Control Of Your Genetic Inheritance." And she leads the cancer genetics program at the University of Texas Southwestern Medical Center in Dallas. She also leads a lab that investigates how cells transform from normal cells to cancer cells.
And she tests positive for the gene that predisposes people to breast cancer and ovarian cancer. She had a double mastectomy and had her ovaries removed in around 2004 when she found this out. So do you give people any advice about how to make the decision if they do test positive for the breast cancer gene, how to decide whether to have a mastectomy or not?
ROSS: Yes. I mean, you really - it's so individual. And luckily, we have genetic counselors who can help, you know, with the daily process of going through that. It takes more than, you know, just oh, I have the information and therefore I'm going to have the surgeries or I'm going to be followed and try to catch an early cancer. You know, it takes some time.
And if a person doesn't have cancer when they find out they have the mutation, there's no rush. So that's the first thing, you know, take your time. But in the end, the reality is that if you have these surgeries, you prevent cancer. This is one of those cancers - situations - it's like smoking. If you stop smoking or you don't smoke, the chances are you won't get lung cancer. If you have prophylactic surgeries, the chances are you won't get breast cancer or you won't get ovarian cancer - pretty good chances. I mean, there's a very slight chance that you will, but you've reduced it by 95 to 99 percent.
GROSS: Say you get tested and you're positive for the gene, but you don't want to get a mastectomy. Is this going to be on your health records? Will employers ever know about this and decide not to hire you because you're predisposed to cancer? Will your health insurance rates go up? What are some of the outcomes as information ripples out into the world, if it does?
ROSS: Well, there is the Genetic Information Nondiscrimination Act that was passed in 2008, which does in some cases prevent such discrimination. So, for example, if you're - work for an employer that has more than 15 employees, they can't discriminate if they find out that you have a mutation, a genetic defect that may affect your health. In this case, If you have the surgeries, however - and life insurances are starting to catch on to this - is if you do this, it's sort of like not smoking. All of a sudden, you're a good bet for them. And they're starting to catch that.
So life insurance is also something that you probably want to get before you find out if you have a mutation. But I've talked to people who are insurance agents for life insurance companies, and they're starting to advocate for it and for action, which is remarkable. But in terms of the Nondiscrimination Act, it was a big deal for genetics so that you can get tested. And in terms of insurance companies - health insurance - you cannot be discriminated against.
It does get into your record now. It used to be we had these shadow records where we didn't put them into the real record. And that was a real problem because then we lost all these people who had mutations and we weren't able to have an accurate medical history on these patients. So now it's in the record, it's good. And in terms of discrimination, I feel it's becoming a historical fact.
GROSS: One of the things you write about in your book is how there's a lot of secrecy surrounding cancer. You write about the difference between secrecy and privacy. Privacy came up for you when you found out that you were positive for the cancer gene, the breast cancer gene. And your husband - who works in a lab that shares a building with a lab that you had - he sent out to what I think is a really interesting email to his fellow workers in that lab. And I just want to read an excerpt of it.
It starts with you may have noticed I've been unusually busy and stressed lately, and I thought it important to share with you some personal information. And he goes on to tell them that you were diagnosed with melanoma in the fall, you had surgery. It was caught early. But as a result of that and cancer in your family, you got the genetic test, which came back positive.
So he writes (reading) the medical issues are complex and distressing. As as a result, Theo and I are quite preoccupied as we work to resolve them. I'm sure that you can understand that this is personal and know that you will respect our privacy by keeping this information confidential. I realize that you may be concerned, but please don't ask for updates or additional information from me or Theo as we're trying to figure this stuff out ourselves. I thought that was really an interesting - I understood the explanations and him asking for, you know, his colleagues to respect your privacy. And I was kind of surprised when he said don't ask for updates or additional information. Can you talk more about that request and why it was important to you both?
ROSS: You know, we really wanted to do the right thing. We wanted to get the right surgeons. We wanted to tell all the family members. We wanted everybody who needed the information to have the information. It was complicated, you know, just trying to figure out where to do things, how to get them done, how to keep our jobs going, how to keep our family happy. And to have distractions of other people, that was a big issue is just to keep it simple and keep go forward and get it done.
GROSS: Now, if I understand correctly, all cancers are caused by genetic mutations but only some of those mutations are genetically passed on...
GROSS: ...Within families.
ROSS: That's right.
GROSS: So what percentage of cancers are genetically passed on?
ROSS: People say 10 percent of cancers have an inherited component that we know of. There was a recent study - it was called the Nortrac (ph) study in Norway and other countries in that area. They looked at identical twins versus fraternal twins and looked at their cancer incidents.
So if you looked at an identical twin and it had cancer and then its other twin had cancer, how frequent was that compared to the fraternal, where they're not identical genetically? And from that, they did a lot of mathematical gimcrackery, something like that, discovered that 33 percent of the common cancers have a genetic component, meaning an inherited component that contributes to their cancer.
GROSS: That's pretty high. And what happens to the genes when it's not an inherited issue? Like, if the genes are still causing cancer, what do we know about how they're transformed during the course of a person's life?
ROSS: Well, the genes that are important in causing cancer - in that, we call it the sporadic situation. It's like you have a blueprint. Your blueprint is what you inherit. And then on the blueprint, there's a renovation, and it's a malignant renovation. And the malignant renovation is these other genes - oncogenes are formed, translocations are formed where a gene becomes too active. And it can cause the cell to proliferate and proliferate and proliferate. And more mutations occur as it proliferates liberates.
Every time a cell divides, it has to copy its DNA. And every time it copies its DNA, there's a mistake here or there. And sometimes that mistake's not fixed. And so we get more and more mutations. And when you get mutations and genes that prevent the cell from dying, so it just keeps surviving, causes it to invade organs, causes it to survive in an organ it shouldn't survive in, that's when you get cancer. And those are sporadic mutations added on to your blueprint.
GROSS: If you're having a preemptive double mastectomy to preventer yourself from getting breast cancer, you're exposing yourself to a lot of risk. That's a pretty major surgery. Convince me that it's really worth the risk when you don't know what the odds are for sure that you would get breast cancer, but you do know for sure if you have the double mastectomy or exposing yourself to the risk of infection to, like, if you want reconstructive surgery, you're exposing yourself to the risk of several surgeries. It's going to take a toll on your body. You know for certain that that's going to happen.
ROSS: Yes, you do. But a mastectomy - you know, bilateral mastectomy and reconstruction puts you at some risk for, like you said, infections and side effects and issues. But if you have a 50 to 80 percent chance of getting a breast cancer that's going to kill you, weighing at the pros and cons there, I think the mastectomy is the way to go because then you prevent that. You go from, you know, a 50 to 80-percent chance down to maybe a 5 percent chance if some cells are left over. And you have a nice long life. You know, if you do the math, it's not so bad.
I have to say, you know, mastectomies are not a big surgery. The oophorectomy is a little bit more complicated because you're taking out the ovaries and you have all of a sudden instant menopause. And there are issues with that - you know, bone density issues, you know, health issues as well as quality-of-life issues, hot flashes, those kind of things. But still, it's a lot better than the alternative, the alternative of dying in your 40s or 50s.
GROSS: That's an alternative you witnessed with your sister.
ROSS: Yeah. Yes, with my sister and many patients who've had these mutations.
GROSS: Well, Dr. Ross, thank you so much for talking with us.
ROSS: Thank you.
GROSS: Dr. Theodora Ross directs the cancer genetics program at the University of Texas Southwestern Medical Center. She's the author of the new book "A Cancer In The Family." After we take a short break, we'll hear from Paul Rust and Gillian Jacobs, the stars of the new Netflix comedy series "Love." And rock critic Ken Tucker will review the new album by the band of Lucius. I'm Terry Gross, and this is FRESH AIR. Transcript provided by NPR, Copyright NPR.