Should you get tested for the breast cancer gene?

Science can tell us more about our futures than ever before . . . but do you want to know?

In 1998, FOF Gail’s doctor suggested that she get tested for the BRCA gene–a mutation that indicates an extremely increased risk of breast and ovarian cancer. She didn’t think twice. “Of course I got tested!” she says now. “My mother had died of breast cancer, and I’d had it once before, at age 42. I wanted to save my life, whatever it took.”

In the end, Gail’s test was negative–she didn’t have the BRCA gene mutation, but she still opted for a bilateral mastectomy soon after taking the test. And she has no regrets today. “If you have a chance to know something, why wouldn’t you know it?” she says now.

We spoke to Dr. Kristi Tough, MD, who specializes in breast cancer treatment at The Cleveland Clinic, about this increasingly popular test. She explains who should get it, what it means, and why some high-risk women choose not to get it at all.

  • What exactly is the BRCA gene?
    • BRCA 1 and 2 are ‘tumor suppressor’ genes that work to repair damaged DNA. In some women, they don’t work correctly–they’re ‘mutated’–resulting in an increased risk of ovarian and breast cancer. A woman with a BRCA 1 or 2 mutation has up to an 80 percent chance of developing breast cancer in her lifetime. (For the average population, risk of breast cancer is about 12% in the United States). Her risk of getting ovarian cancer is upwards of 40%.
  • That’s frightening.
    • Yes, but it’s important to know that less than 10% of breast cancers and less than 15% of ovarian cancers are associated with genetics. So if you have this gene, you have a very increased risk, but if you don’t have the gene, you’re still at risk. Other factors such as age and sex can’t be changed, however modifiable factors such as obesity (especially in post-menopuasal women) and excess alcohol intake also increase your risk.
  • Can anyone have this mutation?
    • It’s inherited, and it has a very specific inheritance pattern. It typically manifests in a strong family history of breast and ovarian cancer (or pancreatic or prostate cancer) and is more common in certain ethnicities, including Eastern Europeans and Ashkenazi Jews.
  • So how do you test women for this faulty gene?
    • There is a blood test that screens for the BRCA 1 & 2 mutations. It’s been around since 1996.
  • Who should get tested for the BRCA mutation?
    • It’s kind of a moving target, because exactly who should get tested differs among some medical organizations. But we encourage patients to consider testing if you have any of the following risk factors as outlined by the United States Preventative Services Task Force:
    • • Two first-degree relatives (ie: mother, sister or daughter) with breast cancer, one of whom was diagnosed at age 50 or younger
    • • A personal history of breast cancer that was diagnosed when you were younger than age 45
    • • A family member who has already tested positive for the BRCA mutation.
    • • A combination of 3 or more first or second degree relatives (aunts, grandmothers, etc) who have been diagnosed with breast or ovarian cancer, regardless of their ages.
    • • One first-degree relative who has been diagnosed bilateral breast cancer. (BRCA 1 & 2 patients are more likely to get bilateral breast cancer.)
    • • A first or second degree relative with a combination of breast and ovarian cancer, or two or more with ovarian cancer.
    • • A history of breast cancer in a male relative.
    • • You are of Ashkenazi descent and you have one first degree relative diagnosed with breast or ovarian cancer or two second-degree relatives on the same side of the family diagnosed with breast or ovarian cancer.


  • Is the test expensive–does insurance cover it?
    • It’s $3,000. But if you qualify, insurance covers about 90% of it. You have to work with your physician or genetic counselor to prove that your risk factors warrant a test, and that you’ve been counseled as to the risks and benefits of knowing your BRCA status.
  • What do you mean by “risks” of knowing your status?
    • If you get a positive result, that’s a lot to digest. Genetic counselors have to explain all the possible outcomes and recommended treatments. They have to ask questions like, ‘If you got a positive results, how would that effect you? Would it cause you anxiety? What would you choose to do with the results?’
  • What are the possible results and options?
    • If you test positive for the BRCA mutation, your risk of breast cancer is 80 percent over your lifetime–and 40 percent for ovarian cancer. That’s when you start a conversation about prevention.
    • First, there’s medication. There are drugs that decrease the risk of breast cancer in high risk patients and have been studied for many, many years. Tamoxifen, for example, is prescribed for pre-menopausal and post-menopausal women. For post-menopausal women, we prescribe Reloxafine. And there are some new medications on the horizon.
    • There’s also surgery. A preventative mastectomy–in which all breast tissue is removed–can reduce your risk of breast cancer by about 80 to 90 percent. In this day and age we have excellent reconstructive options–implants, or breast reconstruction using your own tissue. But for a lot of women, breasts are part of your identity, so not everyone is going to proceed with that. Preventative removal of both ovaries and fallopian tubes reduces the risk of ovarian cancer by 80-90 percent. And the breast cancer risk goes down to 50-60 percent because of the reduction in estrogen.
    • If you don’t want surgery, there’s always increased screening. We start mammography screening earlier and increase the frequency of clinical breast exams. You can also qualify for MRI screening, which can detect very early cancerous tumors. However, while MRI does lead to early detection and treatment, we have not seen a correlation between the use of MRI and a decrease in mortality.
    • No matter what you do–even with surgery–your risk does not go down to zero, and that’s something that a lot of patients struggle with.
  • What if you get a negative result–you don’t have the BRCA mutation?
    • A negative result is great because it’s a true negative. It means your risk is about the same as the general population. However if you have a strong family history of breast or ovarian cancer and test negative, this inheritance pattern could be caused by a mutation in a gene other than BRCA 1 or 2 that increases your risk but is not detected by BRCA analysis. The most difficult result to deal with is “variant of undetermined significance”, which basically means that the test was inconclusive. Those women are counseled to consider increased surveillance with screening and medications to reduce their risk.
  • Are women counseled any differently if they are over fifty when they get the test?
    • No matter what age you are, it’s a risk/benefit discussion. If you’re 30 when you test positive, you have different considerations. We recommend removing ovaries only after you’re finished your childbearing years, for example. If you’re fifty and you have other issues that might be improved by a hysterectomy, such as fibroids or urinary incontinence, than that’s also taken into consideration.
  • Are there women who qualify but choose not to take the BRCA test?
    • Yes, absolutely. I often have patients who say, ‘I don’t want to know. It would cause me too much anxiety. I wouldn’t have surgery, so it makes no difference to me anyway….” Many times, I’ve sent women to the genetic counselor and they’ve come back and told me they don’t want the test. It’s a very personal decision.
  • Wow, that surprises me. If you were in the high risk group, do you think you’d get the test?
    • Yes. And I encourage my patients to do the same so they can make informed health decisions for themselves and their children.
Dr. Kristi ToughKristi Tough, MD, is a board certified internist specializing in women’s health at the Center for Specialized Women’s Health at the Cleveland Clinic. Her clinical and research interests include breast cancer screening, prevention, and treatment of high risk breast cancer patients. She is involved in the early stages of the preventative breast cancer vaccine.

My Story: My Husband Has Prostate Cancer

In October 2010, FOF Linda Cohen’s husband of thirty years, Spencer, was diagnosed with prostate cancer, the most common non-skin cancer in America. That day, Linda joined the ranks of millions of FOFs across America who have been forced to navigate the rules of this relatively new epidemic. “Spencer was young, athletic and healthy. This was a shock,” Linda says.

Prostate cancer affects 1 in 6 American men. It rarely affects men under 40, which means most FOF women are likely to have a husband, brother, father or friend with the disease.

Linda coped by tapping into her network of FOFriends, many of whom had supported their own husbands or boyfriends though prostate cancer. At each step of her husband’s six-month long battle, Linda found solace in their stories and advice. Linda’s FOFriends steered her and Spencer to the “right” surgeon and helped calm Linda’s nerves in the waiting room while he underwent surgery. They also listened to her most intimate concerns: “I asked them, ‘Will we have a normal sex life again? Will he regain control of his bladder?’” Linda remembers.

“Once you start confiding, you realize how strong women are,” says Linda. “Men don’t always talk to other men about these things. We are really the ones who get the information. I bonded with so many women over this.”

Thankful for all the support she received from her FOFriends, Linda wants to make sure every FOF who is supporting a man through prostate cancer, is supported herself. Here she shares her story:

  • Did your husband have any symptoms before his diagnosis?
    • He noticed a little blood in his sperm. He had been told this could be normal and overall he was feeling well. My husband is a very healthy person — he’s an athlete and eats well. So, the diagnosis was a shock.
  • Tell me about the diagnosis.
    • My husband is 57. Every year, for the past five years he has been going for a PSA, a test for prostate cancer. It’s like the male version of a mammogram. It went from 2.75 to 3.2 to 3.75. Then last year it went up to 4.35, a cause for concern.
  • Did the result of the PSA mean he had prostate cancer?
    • Not necessarily. But, it meant he had to have a biopsy. From that, they come up with something called a Gleason score. It’s a number that grades the biopsy based on the appearance of the cancer tissue. He had a Gleason score of 7. A Gleason score of 6 means they might not operate. But, he had a Gleason score of 7 — broken down to a 3 and a 4. Basically, when you get that score, you have cancer and you have to do something.
  • How was he feeling at the time of the diagnosis?
    • He was shocked and depressed even though he tried to keep his spirits and sense of humor up. I think he was angry, like, ‘how could this happen to me?’ He was also scared the cancer may have spread, which thankfully wasn’t the case.
  • What were his options for treatment?
    • The options were either radiation therapies or surgical removal. Due to his youth and good health, for his case they suggested robotic surgery. It’s less-invasive with a faster, more complete recovery rate. There’s also a better chance that the cancer won’t return.
  • What did you do?
    • I contacted about five different women I knew whose husbands had prostate cancer. They shared what they went through. The same name kept coming up in my conversations–Dr. Samadi. Dr. Samadi has treated thousands of patients using robotics and goes all over the world to teach this treatment. We got three different opinions, but when we met with Dr. Samadi, we knew we were going with him.
  • What are the risks of robotics?
    • After removal of the prostate, you can’t produce sperm. There’s a risk of sexual dysfunction and urinary incontinence. The robotic surgery decreases the chance of incontinence and sexual dysfunction.
  • How long after his diagnosis was the treatment?
    • He was diagnosed in October and had surgery in January.
  • How did you support him during this time?
    • Before he went to the surgery he needed to do Kiegel exercises to control help strengthen his urinary sphincter. I would help by reminding him to do his exercises.
  • Tell me about the surgery.
    • Spencer took ten days off of work. He had just started a new job. The surgery lasts about three and a half hours and you can stay [in the hospital] one or two days. We stayed one day. They remove the prostate and lymph-nodes through fix or six quarter-sized holes incised in his abdomen. The waiting room where I stayed was like a hotel lobby. I was with about eight different women, and all their husbands were there going through the same thing. While he had the surgery, I bonded with them.
  • What happened after the surgery?
    • The surgery went well. The surgeon said that the cancer was more pronounced than the biopsy had showed but that they got it all. He will continue to have regular check ups to make sure his PSA remains at 0. You don’t immediately know if he will be incontinent or impotent.
    • He had a catheter for about a week and after that he wore Depends. During the day, he would leak. It was embarrassing to him, especially when he went back to work. He tried to minimize the amount of liquids he drank. He continued doing Kiegels to regain urinary control.
  • How did you support him through his recovery?
    • I’d ask him, ‘Did you do your Kiegels?’ and I’d say, ‘You’re doing great.’ I’d take walks with him because he couldn’t exercise during that time. I would take out a chess board even though we haven’t played chess in years, to get his mind off things. I’d make him laugh when he was embarrassed about leaking by saying, “You’re really packed down there.” He made fun of himself by telling me not to make him laugh because he’d squirt.
  • Did it help?
    • Sometimes. I tried not to take things personally. When he said he wanted to be left alone, I left him alone — he really needed his space through the recovery.
  • Did he ever regain control of his bladder?
    • Yes. He’d talk to other men who said, ‘I had control within two months’ or ‘I was back to work within a week.’ Everyone heals differently. For him, it took 6 months. He lived in Depends during that time and it progressively got better.
  • What about your sex life?
    • After the prostate removal, you can’t produce sperm but you may be able to have an erection and orgasms. . They prescribed him Viagra six weeks after the surgery to assist with an erection and an orgasm. Fortunately after about four weeks he was able to have an erection. It’s been six months and now we have a normal sex life again both with and without medication.
  • Did you pray?
    • Yes, of course. I prayed every day, but I always felt he would be fine. He started practicing meditation and yoga with me. We spoke to our Rabbi about it. Spiritually, it brought us together — it made us more aware that life is short and helped us learn where we want to put our priorities at this point.
  • What was the hardest part?
    • To see your husband or someone you love hurting is difficult in any situation. Seeing a man wearing what he felt was a diaper — I just felt such compassion for him. There was shame associated with it, and I really had to make him feel important in other ways.
  • How did you keep your own sanity through it all?
    • I kept busy. I kept balanced. I was there when he needed me but I gave him space and continued my life.
Linda Cohen
Fashion merchandising consultant
FOF Linda Cohen is a fashion merchandising consultant from New York. Her husband, Spencer, was diagnosed with prostate cancer in 2010.

You’re putting what–where?!

Forty percent of FOFs still aren’t getting colonoscopies. Dr. Michael Kreines thinks he knows why…

Colorectal cancer is the most preventable and curable type of cancer. In fact, when it’s caught early, the five year survival rate is over 90 percent. And here’s more good news: colonoscopy, the most effective means of prevention, is fully covered under the new Affordable Care Act–you don’t even need a copay!

Yet 30-40% of adults over 50 still don’t get screened. What’s up, FOFs?

We spoke to Dr. Michael Kreines, a gastroenterologist and medical advisor for the Colon Cancer Alliance, about why women aren’t getting screened and what you can do about it. (Hint: It’s no big whoop. Just do it.)

  • Okay, why aren’t women getting colonoscopies?
    • They have to go somewhere and do something that they think is going to be uncomfortable, embarrassing and may result in bad news.
  • They’re afraid of the results.
    • Yes. They think, ‘gosh, if I’ve got cancer, I don’t want to know about it. I’m gonna die anyway.’ They associate getting a colonoscopy with finding cancer. But that’s not really what it’s about. Colonoscopies prevent cancer. We find polyps–which are little growths that can become cancer. And we remove them before they become cancerous.
  • So it’s like a pap smear? Or removing a mole?
    • Yes! That’s the analogy I use all the time. You’re detecting precancers.
  • Who should get a colonoscopy and and when?
    • If you’re 50 or older and you’ve never had a colonosopy, get one now. Your first one should be at age 50. If someone in your immediate family had colon cancer, then get your first one at age 40. If your immediate family member had colon cancer at a young age–for example, if your sister had it at 40–then have your first colonoscopy at 30. Just subtract 10 years from the age of your relative when he or she was diagnosed.
  • What if you have an aunt, uncle or grandparent who had colon cancer?
    • The data shows that your risk is a little elevated, but not as high at it would be with a first-degree relative. Still, if your aunt was young–for example, she was 40 when she was diagnosed–then we would start you a little bit younger. And if you have several second-tier relatives who’ve had it, then we would probably start you at 40.
  • How often should you get a colonoscopy?
    • Every 10 years. If you have a family history, have it done every 5 years. If we find polyps, then we encourage you to come back in 3 years.
  • If it’s been less than 10 years since your last colonoscopy, what sort of symptoms should send you back to the doctor early?
    • The most common symptom of colon cancer is no symptom at all, and that’s why colonoscopy is so important. You can’t wait for symptoms to be screened! But you can watch out for bleeding or blood mixed with your stool, abdominal pain that you haven’t had before, or a change in your bowel movements, such as unusual bouts of diarrhea or constipation.
  • What exactly happens when you get a colonoscopy? Does it hurt?
    • No–it really doesn’t. The night before, the patient drinks a bowel cleanser. Many people describe that as the worst part of the whole procedure because it basically gives you diarrhea. The day of the colonoscopy, you come in, put on a gown and are sedated.
  • Some people are nervous about being sedated. What kind of sedation do you use?
    • It’s called twilight sleep. You’re sedated, but you can still respond to questions and commands…you just don’t remember anything afterwards. While you’re sedated, we insert a flexible fiber optic scope into your rectum and up through your colon to look for polyps. If we find anything, we remove it right then.
  • Are there any alternatives to colonoscopy?
    • One alternative test checks your stool for evidence of microscopic blood. It’s based on the theory that any lesion or cancer will bleed. The problem with that test is that it’s not very accurate. There are a lot of tumors that don’t bleed, or they bleed intermittently, so you might be falsely reassured that you’re okay, when you’re not. There’s also a CAT scan, which is called virtual colonoscopy. It uses a fancy computer program to digitally make a picture of the colon. The problem with that test is that it’s very expensive, most insurance companies don’t pay for it, and it exposes you to a lot of radiation. Also, if polyps are found during the virtual colonoscopy, the patient will still need a regular colonoscopy to remove them.
  • Which test do you recommend?
    • The colonoscopy. It’s just the best test.
  • What else do you think would encourage women to just get screened?
    • It would be nice if the colonoscopy gown was more attractive. In fact, if you have any members who would like to design a more appealing gown, I’d love to talk to them.

Here’s something else that might inspire you. Right now, Olympus is donating $1 to The Colon Cancer Alliance for every woman over 50 years old who makes the commitment to get screened. Visit to commit right now!

Dr. Michael Kreines
GastroenterologistDr. Michael Kreines is a gastroenterologist with the Ohio Gastroenterology and Liver Institute in Cincinnati, Ohio, and a Member of the Medical Science Advisory Committee for the Colon Cancer Alliance

Catching colon cancer early will save your life. Really it will!

If you’re FOF and have never been screened for colon cancer, you’re making a big mistake

  • FOF: Why should FOF women pay attention to colon cancer?
    • Dr. B: There are 106,000 cases of colon cancer every year and 40,000 cases of rectal cancer. Women account for slightly less than half of the cases. The incidence for colon cancer increases significantly after age fifty. Over 90 percent of cases are diagnosed after fifty.
    • Colorectal cancer is third largest cancer killer for women (and men), after lung and breast cancer.
  • FOF: Can we prevent colon cancer?
    • Dr. B: Changing certain personal habits will decrease—not prevent—the risk of developing colon cancer:
    • Weight. Obesity can trigger the disease.
    • Physical Activity. Begin a regular exercise program. You don’t need to be a decathlon runner, go to the gym or run on a treadmill. Walk for thirty minutes, five days a week. It can be regular walking.
    • Diet. Stay away from red and processed meats, such as bacon and ham.
    • Eat more fruits and veggies, which will help your stool travel more quickly through your GI tract. The longer food stays in your GI tract, the greater the potential adverse reaction. Fruits, fibers and veggies increase transit time.
    • Alcohol. One or two drinks daily are probably okay, but you increase your rate of colorectal cancer if you drink more.
    • Smoking. There probably isn’t an organ is your body not impacted by smoking.
  • FOF: Is colon cancer curable?
    • colonoscopyDr. B: Yes, if it’s a localized cancer found in its earliest stages, before it has broken through the wall of the GI tract. If colon cancer is caught and treated in its first stage, the five-year survival rate is 90 percent, which is very good. This means the majority of people will live at least five years after diagnosis.
    • As the cancer progresses through the wall of the GI tract, to localized lymph nodes and other parts of your body, long-term survival rates decrease.
  • FOF: Can colon cancer be detected early?
    • Dr. B: Yes. The American Cancer Society recommends a screening test for all average-risk women over fifty. Some women may need to do screening earlier, depending on their predisposition, including family history or some other condition, such as irritable bowel disease (IBD.)
  • FOF: Is there one test?
    • Dr. B: No, there are a few. Colonoscopy is the gold standard. It visualizes the GI tract and allows the doctor to see and easily remove pre-cancerous polyps.
    • A fecal occult blood test lets the doctor examine stool on a card to look for blood, which could be the sign of a bleeding tumor. New stool tests can also screen for the presence of cancer cells.
    • Flexible sigmoidoscopy visualizes only the large intestine.
  • FOF: How often should we have those tests?
    • Dr. B: It depends on which test you do.
    • Average-risk women should have the colonoscopy every 10 years after age fifty. This is the current recommendation from the American Cancer Society. If a doctor sees something, or if you have a strong family history of colon cancer, he or she may recommend that you do the test more frequently.
    • The fecal occult test should be done every year and the sigmoidoscopy every five years.
  • FOF: Every ten years seem like a long time between tests. What if I walk out of the doctor’s office after a negative colonoscopy, and the cancer starts growing that day?
    • Dr. B: The cycle of this cancer takes years. It starts as a polyp. So ten years is the recommendation. Of course, if you have symptoms, you shouldn’t wait ten years to check them out.
  • FOF: What symptoms should we look for?
    • Dr. B: There are often no symptoms for early colon cancer, so you don’t know if you’re having a problem. That’s why you need a screening test.
    • As the cancer progresses, you could develop anemia or blood in the stool, see a change of bowel habits, or have bloating or cramping in the abdomen. Bleeding doesn’t mean you definitely have colon cancer, but you should follow it up.
    • The older you are, and the further away from screening, the more advanced the tumor will likely be.
  • FOF: Does cancer move more slowly in older people?
    • Dr. B: Not necessarily.
  • FOF: What’s the first thing you do when you learn you have early stage colon cancer?
    • Dr. B: You don’t need to follow up the next day, but the sooner you do, the better. You don’t want to risk of the cancer moving to stages 2 or 3.
    • You will need some combination of surgery, chemotherapy and radiation therapy. It’s best to see a medical oncologist first (vs. a radiation oncologist) to assess the best approach to take for long-term survival and a decent quality of life. If he thinks radiation is indicated, you may have radiation therapy before chemotherapy.
    • If the cancer is very localized, you might only require surgery.
    • The American Cancer Society is a great resource to discuss programs and treatments. Call at 1-800-227-2345 or visit
  • FOF: What percent of the population does not go for some sort of screening?
    • Dr. B: 30 to 40 percent of the population over fifty does not have a test of any kind.
    • Of the estimated 50,000 people (men and women) who died from colon cancer in 2008, screening could have saved half their lives.
  • FOF: That’s an astounding percentage, especially after Katie Couric had a colonoscopy right on live TV to encourage people to get screening.
    • Dr. B: It is.

Note: Colonoscopies can be expensive because of the sophisticated equipment used and anesthesia. Unfortunately, people without health insurance may choose not to have the test.

Dr. Clare B. Bradley
American Cancer Society Eastern DivisionDr. Clare B. Bradley is the Chief Medical Officer of the American Cancer Society Eastern Division. She is the recipient of the Society’s prestigious St. George National Award for 2009 for outstanding contributions to the control of cancer.