BRCA 1 and BRCA 2: Knowing Your Risk and Screening Options

Thursday, February 27, 2014 2:50 PM comments (0)

geneticsPeter Hulick, MD, MMsc, Medical Geneticist at NorthShore, discusses the increased risk for breast and ovarian cancer in women who carry the BRCA1 and BRCA2 gene mutation. He responds to the recent study from the Journal of Clinical Oncology on the impacts these mutations have on women as well as identifies ways women can minimize their risk.

What are your general impressions of the new study? 
The study, particularly given its size, helps further parse out the details of risk differences between BRCA1 and BRCA2.  There have been retrospective studies that have suggested this, but here we have a prospective study that adds further evidence.  In addition, it looks at overall reduction in mortality which shows the gains go beyond the ovarian cancer risk reduction.

Who is most at risk for having the BRCA1 and BRCA2 mutation?  
There are many potential ways someone can be at risk, but certain characteristics stand out:

  1. Anyone of Ashkenazi Jewish descent who has personal history of breast cancer or a personal history of ovarian cancer
  2. Anyone diagnosed with breast cancer at age 45 or younger
  3. Anyone diagnosed with ovarian cancer at any age

Ultimately, if you have been diagnosed with breast and or ovarian cancer, or multiple family members have, you should discuss the family history with a cancer risk specialist.

What is the difference between the two genes?  
Both genes are involved in how the body repairs DNA damage that accumulates and maintaining the “checks and balances” that control cell growth.  As this study reinforces, there are differences in cancer risks associated with each.  While the risk for ovarian and breast cancer might be somewhat lower for BRCA2 than BRCA1 (though still considered high compared to average risk), BRCA2 mutation carriers tend to have higher risk for other BRCA-related cancers (e.g. pancreatic, prostate).

What preventative measures can women engage in to minimize their risk of breast and ovarian cancer?  
The first step is to get an accurate assessment of one’s risk.  Women may still be at elevated risk even if BRCA testing is negative.  Other genes and non-genetic factors contribute to ovarian and breast cancer risk.  Depending on the risk level, certain options exist for increased screening, preventative medications or preventative risk-reducing surgery.  This is a complex and very personal decision and accurate information about risk is key.

What screening options are available for women to learn more about their risk? 
The first thing women can do is to get an accurate family history from BOTH sides of the family, then discuss with one’s physician.

What next steps would you recommend for women with the BRCA1 / BRCA2 mutation? 
I would recommend women talk to their doctors about speaking to someone familiar with cancer genetics such as a geneticist, a genetics counselor, or a gynecologist/oncologist/breast surgeon knowledgeable about the management of BRCA carriers.  There are online resources from Be Bright Pink and FORCE that can be helpful in understanding the implications of having BRCA mutation and putting in a plan to reduce risk.  As this study and others have shown, we have the ability to greatly reduce one’s risk if we know one faces these risks.

Ovarian Cancer: Early Diagnosis Is Essential

Monday, September 30, 2013 1:35 PM comments (0)

Dr. KirschnerCurrently there is no early detection test for ovarian cancer. Until such a test exists, raising awareness about the signs and symptoms of ovarian cancer is essential to early diagnosis. If diagnosed and treated early, ovarian cancer survival rates are over 90%. 

As part of Ovarian Cancer Awareness Month, Carolyn Kirschner, MD, Gynecologic Oncology, answers questions on ovarian cancer, from things you can do now to reduce your risk to the early symptoms you just might overlook. 

What are some early signs of ovarian cancer that might be overlooked or ignored? How do you know when it is time to see a doctor? 
Abdominal pain, bloating, being full after eating a little, new constipation or diarrhea, urinary frequency, fullness in the pelvis, low back pain, nausea/vomiting, fatigue are all possible symptoms of ovarian cancer—but are vague and may be symptoms of other problems. If symptoms occur several times per week for a month, medical care should be sought. Start with a good primary care physician who can do an exam and then possible imaging studies.

What is the most cost-effective screening test for early detection of ovarian cancer?
Most experts would say that screening should only be performed on women who are at increased risk of ovarian cancer, for example those with a BRCA gene or a strong family history of ovarian cancer. These people may be screened with ultrasound and serum (blood) CA125. Unfortunately, there may be false positives, especially in younger women, which may result in unnecessary tests or even surgery.

Is it possible to mistake ovarian cancer for fibroids on both a transvaginal ultrasound and a pelvic MRI?
Yes, mistaking ovarian cancer for fibroids can happen. Fibroids are common and ovarian cancer is not. Fortunately, imaging has greatly improved, so this mistake does not happen commonly these days. If there are any questions or concerns about a diagnosis, a woman who undergoes ultrasound and/or MRI imaging can and should request a disc with the images on them and get a second opinion.

If there is a family history of the disease but no BRCA gene mutations, is your risk for developing ovarian cancer still higher? What can you do to reduce that risk?
Most ovarian cancer is not hereditary, so risk should be the same as the general population, which is less than 2%. While never having children seems to be associated with an increased risk of ovarian cancer, I would never recommend getting pregnant just to decrease the risk. If you are premenopausal, oral contraceptives may decrease your risk. Birth control is protective because it prevents ovulation. It is theorized that breaks in the surface of the ovary, which occur with ovulation, may result in injuries that can lead to cancer. Vitamin D may also be protective. 

Diet is important. Cancer risk is increased with obesity. I recommend a plant-based, whole-grain diet. Limit saturated fats, white flour and refined sugar. I am a firm believer in exercise for weight control and sanity.

Keep in contact periodically with the genetics staff, in case there is a breakthrough in this area.  NorthShore has a high-risk clinic through Division of Gynecologic Oncology, and this may be a good way of staying on the "cutting edge.” 

What is the best scan for ovarian cancer? CT, MRI, ultrasound or PET?
Each has its advantages. The ultrasound is the least invasive, least expensive and does not use radiation. The CT and MRI look at anatomy. The PET looks at function. For screening, the ultrasound is best.

The BRCA1 and BRCA2 Mutation: A Patient Faces Her Cancer Risk Head On [Video]

Thursday, May 16, 2013 3:44 PM comments (0)

A mutation found in the BRCA1 and BRCA2 genes puts women at an increased risk for developing breast and ovarian cancer. After learning that both her aunt and mother had the BRCA1 mutation, Sivan Schondorf was tested for the mutation at 24 years old and discovered that she was also positive. She began frequent surveillance for breast and ovarian cancer immediately. At 28, when she felt that surveillance was no longer enough, she opted to take control of her risk and undergo a preventative, nipple-sparing mastectomy with reconstruction at NorthShore.

brca1

With BRCA1 and BRCA2 in the news, she shares her story so that other women know how to find the correct information about their risks and options. 

What were your initial thoughts when you learned you tested positive for the BRCA1/BRCA2 gene mutation?

I was sad and worried to learn I had a BRCA 1 mutation, but I was able to push a lot of that fear aside because I was still years away from the recommended surgery time. I was 24 years old at the time.

What prompted you to get tested for this mutation? And then why did you decide to undergo a risk-reducing, nipple-sparing mastectomy with reconstruction.
My maternal aunt had what is now known as a triple negative BRCA1 breast cancer that metastasized and resulted in her passing before she was 50 years old. Our family OBGYN, Dr. Lapata, had good instincts and recommended that she test for the BRCA mutation. The red flags being that she had a cancer that was premenopausal and aggressive, and that she was of Ashkenazi Jewish descent. 

This was in 2000, so it wasn't something any of us had heard of. Once my aunt tested positive for the mutation, my mother found out she had the mutation as well. I was subsequently tested in 2005 and with a positive result, I opted for surveillance. At 24, I thought I was years away from any possible surgical interventions; however, after only after three years of surveillance, I felt the threat of cancer looming. I realized that surveillance wasn't protecting me; it was only enabling me to discover it at an early stage. The only way to significantly lower my risk was mastectomy, so I scheduled my surgery for the next year, which was around my 28th birthday.

The nipple-sparing one-step was the best option for me because it required less surgery than having expansion over time. I was also comfortable keeping my nipples because, aside from the more natural, aesthetic result, research shows that keeping one's nipples is safe as long as the surgery is done preventatively rather than when cancer is present.

How has this decision impacted your life?
In the very short-term, I felt different from my friends because I was thinking about things that women my age don’t normally have to think about. My thoughts were often on my situation. Five years later, as a working mother and wife, I hardly ever think about it, except at my yearly clinical exam. It's something from my past that I faced head on.

I’m so much more comfortable now that my risk for breast cancer is so much lower. I do still monitor my ovaries at least twice a year. I have not yet pursued surgical intervention because I’m not done having children and do no feel the cost-benefit of beginning menopause at 31 is worthwhile. I’m looking at having an oopherectomy by age 40.

It’s been a few years since you had this surgery. How are you doing?
I'm great! Having a baby (and now expecting my second) has done far more to change my body than the mastectomy did. I don't regret it for a second. I would do anything to improve my chances of being around to see my children grow. I want to be there for them as long as I possibly can. Clearly, Angelina Jolie felt the same way, and I’m proud to have been one of her trail blazers!

What advice would give to women who are at an increased risk of developing breast cancer?
Every woman comes to a decision and place of acceptance differently. We all have different perceptions of our bodies and what we can and can't live without. Some have lost mothers due to this mutation and some find out about BRCA unexpectedly, without even knowing about the elevated risk of cancer in their families.

Each woman must decide what level of risk she can live with. After watching my Aunt Linda die so quickly from this insidious disease, and also having my mother as a role model for me when she had her surgery, I decided that surgery at an early age was right for me. It doesn't mean its right for everyone. 

The most important thing is for women to have the most accurate information, which they can get from genetic counselors and doctors. They should also seek support from the local BRCA community so they can make informed decisions and have the emotional support that a community can provide. FORCE (Facing our Risk of Cancer Empowered) has provided my family with that support, and we try to give back to our community as much as possible.

Is there any other information you’d like to share?
I filmed my surgery process at NorthShore’s Evanston Hospital and at home in order to help empower other women and to make the experience more meaningful for myself. Because I'm not a filmmaker, I have not yet been able to edit the hours of footage. Seeing Angelina Jolie come out to the public has reignited my passion to finish this short film, which I hope will help other women.

Ovarian Cancer – Simple Screening that Could Save your Life

Wednesday, September 12, 2012 12:48 PM comments (0)

Ovarian-CancerSeptember is Ovarian Cancer Awareness Month and an important time to recognize that this disease is the 5th leading cause of cancer deaths in American women.  The cause of ovarian cancer is poorly understood, and in addition, ovarian cancer can be much more difficult to detect than other types of cancer.

Symptoms of ovarian cancer may be vague and may mimic other common women’s health conditions.  Women and health professionals may attribute symptoms to menopause, aging, stress, changes in diet or depression.  This may result in a delay in the diagnosis of ovarian cancer.  The most common symptoms include:

  • Bloating or increased abdominal size
  • Pelvic or abdominal pain
  • Urinary symptoms
  • Difficulty eating or feeling full

Carolyn Kirschner, MD, Gynecological Oncologist at NorthShore, identifies some strategies available for women:

  1. In general, symptoms that last longer than a month, or become more frequent or severe than before, should be investigated.  This may be as simple as a pelvic exam in your doctor’s office, a pelvic ultrasound or more extensive testing.
  2. Become familiar with your family history.  The most important risk factor for ovarian cancer is a family history of breast or ovarian cancer.  A family history of ovarian cancer in a mother, sister or daughter triples your risk.  A personal or family history of breast cancer prior to age 50 or of bilateral (both breasts involved) breast cancer may indicate increased risk.  NorthShore’s Center for Medical Genetics can access your family cancer history and provide recommendations based on your personal risk.
  3. Currently, the only group of women for whom routine screening, in the absence of symptoms, is recommended are those with high risk, primarily carriers of the BRCA genetic mutation.  Prophylactic (preventive) removal of tubes and ovaries may be considered in these women.  The surgery is usually done using a laparoscopic technique which requires general anesthesia but is an outpatient procedure.  For women in the childbearing age group, birth control pills may have a protective effect on ovarian cancer.

Have you known someone with ovarian cancer? Do you know if it’s in your family history?

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