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.

Breast Cancer Screening Guidelines

Friday, February 14, 2014 11:22 AM comments (0)

cancer

The update to a report first published 25 years ago in the British Medical Journal continues to raise important questions about the value of mammography; however, it must be considered in the context of other randomized trials that confirm a significant reduction of breast cancer mortality in women who regularly undergo screening mammograms. This report shows, as it did previously, an improvement in survival rates for women who had their breast cancer detected via mammogram before clinical signs of cancer had become apparent. 

As screening technology continues to evolve, screening guidelines may be modified.  At present, there is convincing data that women should have annual screening mammograms beginning at 40, as suggested by the American Cancer Society’s guidelines. Those with a strong family history or a genetic predisposition may begin screening earlier after consultation with their physician.

For more information on mammography services and locations at NorthShore, please visit northshore.org/mammogram

Breaking the News: How Katie Clarke Told Her Children About Her Breast Cancer Diagnosis

Tuesday, October 29, 2013 12:20 PM comments (0)

Katie Clarke was diagnosed with breast cancer in 2011. She underwent a bilateral mastectomy with reconstruction at NorthShore Glenbrook Hospital, followed by four months of chemotherapy and a year-long course of Herceptin treatments at Evanston Hospital. 

Before her own diagnosis, and in memory of her best friend who lost her own life to the disease in 2006, Katie and her family would make a point of cheering on the participants of the three-day breast cancer walk in Chicago armed with motivational signs and licorice. This, and her own breast cancer journey, would later inspire Katie and her sister to found The Licorice Project, an organization devoted to spreading joy during a difficult time and bringing together breast cancer patients, survivors, families and friends. 

In part two of her NorthShore patient story, Katie shares one of the most difficult but important moments following her breast cancer diagnosis:

Katie ClarkeI’m often asked, “How and when did you tell your kids you had breast cancer?” My husband and I agreed that we wanted to be open and truthful about everything as soon as my diagnosis was confirmed. We turned to my breast surgeon, Dr. Winchester at NorthShore University HealthSystem, for advice on what to say to our three middle school-aged boys. We planned a family meeting and decided that I would do the talking.

I began the conversation by telling them that I’d found a lump in my chest, to which my youngest shouted, “You’re pregnant!?” When I said, “No,” he answered, “Phew!” I told them that the lump was in my breast and they wanted to know immediately if it was cancer. When I said that it was, they all began to cry. It broke my heart to see them so sad and frightened. Holding their hands, I assured them that the doctors were very encouraged and had given me a good prognosis since the lump was very small and I had caught it early. I explained to them that there would be many steps, tests and procedures. I explained that it would take time and patience but that when I finished the therapy, I would be okay. Of course, many questions followed:

“Are you going to die?”
“Will you lose your hair?”
“Will you get a wig?”
“Who knows about this already?”
“Can we tell people?”
“What should we say?”
“Does this mean we can get breast cancer?”
“Are people going to bring us dinners?”

My husband and I answered the questions as best as we could, which, of course, led to even more questions. Since school was about to end for summer vacation, we assured the boys that all their summer plans would stay intact. We wanted to keep their lives as “normal” as possible. The family meeting concluded with lots of hugs and kisses.

Telling our children that I had cancer was the hardest thing I’ve ever had to do; however, it was also one of my proudest moments because of the strength and composure that I maintained during such a difficult conversation. There’s no right or wrong way to explain a cancer diagnosis to children. Each family will deal with it in their own unique way and to the best of their ability.

 

Finding the Strength to Smile: Krissy Posey's Breast Cancer Diagnosis at Twenty-Eight

Tuesday, October 22, 2013 9:00 AM comments (0)

When Krissy Posey was diagnosed with breast cancer at only 28, the first words out of her mouth were, “Okay. Just tell me what I need to do next.” Her next steps were to get a second and third opinion before returning to NorthShore for treatment, choosing the expertise of Katharine Yao, MD, and the team of caregivers at NorthShore Kellogg Cancer Center for a bilateral mastectomy and chemotherapy, followed by reconstruction. 

In her NorthShore patient story, Krissy recounts the difficult and surprising moments of her battle with breast cancer, but also how and why she found the strength to smile: 

How did your journey to diagnosis begin?
I hadn’t started mammograms since I was only in my twenties. I don’t really have a family history of breast cancer other than a great-aunt who has been battling the disease for over 10 years.

I came home from work one day and, as I was stepping out of my work clothes, I felt an itch in my right breast. When I went to scratch it, I felt a small mass. I was on the phone with my sister at the time and told her I felt a lump in my breast and she encouraged me to get it checked out.

What went through your head when you learned that you had breast cancer at only 28?
I was at work when I received the call from my doctor, Catherine Dillon. She asked me if I wanted to come into the office for the results. I told her to just lay it on me. After she told me that she didn’t have good news, that the test came back indicating cancer, my response was, “Okay. Just tell me what I need to do next.” 

Dr. Dillon said the doctors wanted to see me right away. In a matter of two hours, I was told that I had cancer, made my way to the hospital and was sitting in a room with Dr. Yao discussing my diagnosis and next steps. I remained calm and at peace during this time. Yes, it was all happening so fast but after I got off the phone with Dr. Dillon, I prayed and then called my family to tell them the news. 

What stood out about your care at NorthShore?
After receiving a second and even third opinion at other healthcare facilities, I came back to Northshore for treatment. My team of doctors included: Catherine Dillon, MD, Obstetrics/Gynecology; Katharine Yao, MD, General Surgery; Teresa Law, MD, Medical Oncology; Mark Sisco, MD, Plastic Reconstruction Surgery and, of course, all of their fabulous nurses.

My team of doctors and nurses are simply the best in the business. I wasn’t just a patient to them; I was a person. They showed care and concern, and made what could have been a very traumatic time in my life a lot easier to get through. I never second guessed the treatment I received. I trusted the doctors and their recommendations. 

What was the most difficult part of treatment?
The doses of Adriamycin Cytoxan (chemotherapy drug). The nurses call it the “Red Devil,” and now I know why. The medicine is red and really takes a toll on your body. After a while, I couldn’t even eat or drink anything red without getting nauseated. 

What surprised you most about the experience?
This may sound bad but I was surprised that I didn’t “look” as sick as I thought I would during such an extensive treatment plan. It was important to me to look as “normal” as I could and not show many signs of weakness for two reasons: 1) That’s how I chose not to let the disease get the best of me and 2) I wanted to remain strong for my family. I knew if they saw me in a certain condition that it would really worry them.

What advice would you give other women currently undergoing treatment?
Try to be positive, see what good can come out of this situation and smile. I know you are going through a lot but if others see you can smile through all of this, it not only gives them hope but it also does something good for you too.

 

Think Pink: Breast Cancer History, Risk Factors and Prevention [Infographic]

Wednesday, October 16, 2013 11:56 AM comments (0)

This October during National Breast Cancer Awareness Month, help us spread the word about the importance of early detection and prevention.  Yearly mammograms can help identify breast cancer in its early, treatable stages and various lifestyle changes may help reduce your risk of developing the disease. 

NorthShore University HealthSystem has created a breast cancer infographic that includes a brief history of the disease, risk factors and preventative measures. Click on the image below to view our full breast cancer infographic and find out what you can do now to reduce your risk. 

breast cancer infographic

One Step at a Time: Katie Clarke’s Journey from Patient to Breast Cancer Mentor

Tuesday, October 15, 2013 2:47 PM comments (0)

Katie Clarke was diagnosed with breast cancer in 2011. She underwent a bilateral mastectomy with reconstruction at NorthShore Glenbrook Hospital, followed by four months of chemotherapy and a year-long course of Herceptin treatments at Evanston Hospital. 

Before her own diagnosis, and in memory of her best friend who lost her own life to the disease in 2006, Katie and her family would make a point of cheering on the participants of the three-day breast cancer walk in Chicago armed with motivational signs and licorice. This, and her own breast cancer journey, would later inspire Katie and her sister to found The Licorice Project.

In part one of this two-part series, Katie shares her NorthShore patient story, from her road to diagnosis, to what’s next for her and the passion project born from her experience with breast cancer:

Katie ClarkeHow did your journey to diagnosis begin?
In 2011, at the age of 45, I found a lump in my breast, despite the fact that I had diagnostic mammograms every six months for the previous 1 1/2 years and no family history of the disease. An examination, diagnostic mammogram, ultrasound and biopsy confirmed the diagnosis. 

How did you feel in the weeks after diagnosis and during treatment? What was hardest? What was surprising?
I felt scared and overwhelmed in the weeks following my diagnosis. There were so many appointments, tests and decisions to make in a short amount of time. During treatment, I felt sick for a couple of days after chemotherapy but then felt fine for the next two weeks, and even went back to substitute teaching until the next round of chemo. I just did what I was told by the doctors; I kind of felt like I was on autopilot. 

I didn't really process my emotions until I was finished with treatment. Then I thought, "What just happened to me?" Once I regained my energy, I had trouble "re-entering" my active and hectic family life. My priorities had changed: I wanted to just relax and enjoy a slower-paced life with my family.

I would say the hardest times were recovering from surgery and the management of lymphedema. But what surprised me were the silver linings that I encountered, especially all the wonderful people I met along the way. 

What brought you to NorthShore for your treatment?
My father, Dr. William Kerr, is a physician at NorthShore. Evanston Hospital has been a part of my family's life forever. I have received all my medical care there. 

David Winchester, MD, Surgical Oncologist, was recommended by my OB/GYN’s office. Dr. Winchester and I live in the same community. We know each other personally through our children's sports teams. I never imagined I would become one of his patients. I’m honored to call him both my doctor and friend.  

I felt well cared for by everyone at NorthShore, especially everyone on my care team: Dr. Douglas Merkel (oncologist), Dr. Joseph Feldman (lymphedema), Dr. Kim Grahl (internal medicine), Dr. William Banzhaf (obstetrics and gynecology), Bonnie Ryszka (oncology nurse), Meg Madvig (Kellogg social worker), Maria Sobel (physical therapy for lympedema massages) and Patricia Piant (acupuncture). The staff at NorthShore is loving, knowledgeable and compassionate. I feel so lucky to have been taken care of by the incredible staff at NorthShore!

What do you know now that you wish you’d known before/during treatment?
I wish I had been more knowledgeable about the long-term effects of lymphedema. (Editor’s Note: Lymphedema is a swelling that occurs in arms and legs, but generally only in one limb. It’s caused by a blockage in the lymphatic system, which prevents lymph fluid from draining. Lymphedema can be caused by another condition or a disease that damages lymph nodes or vessels, like surgery, radiation, cancer and infection.)

Katie Clarke 2What helped you most during treatment?
Family members and friends accompanied me to all of my treatments (17 in total). I chose to use these days as an opportunity to spend unique quality time with friends and family. 

Where did the idea for The Licorice Project come from?
Shortly after my treatment began, I started mentoring others and sharing resources and tips that had been helpful to me. It’s so important to connect with others who have “been there, done that” and can help manage expectations. At the same time my sister, Kendra, was getting involved in the Chicago startup scene. Together, we wondered what we could do to help make the journey less overwhelming for future breast cancer patients and the people who care about them. We searched for a way to use technology to connect and empower people but to also facilitate offline relationships. The Licorice Project was our answer.

Our goal is to change the breast cancer experience by connecting people locally, sharing resources, and making it easier to give and receive help. We focus on the practical, social and emotional aspects of having breast cancer, and strive to complement what the medical community and other cancer organizations are doing. 

Why Licorice? 
While participating in our first breast cancer walk, we were touched by those who came out to cheer us on and give us treats—like licorice. That inspired us to begin our own family tradition of handing out licorice to walkers in Chicago as they passed through our neighborhood. This simple gesture made people feel happy and upbeat and brought a smile to their faces. Our hope is that The Licorice Project will improve the lives of everyone affected by breast cancer and spread a little unexpected joy along the way.

What’s next? For you? For The Licorice Project?
I feel great! I will continue to have my blood work done and see my doctors every three months. I’m passionate about mentoring newly diagnosed patients and honored to serve on the Oncology Patient Advisory Board at NorthShore Kellogg Cancer Center.

As for The Licorice Project, we are focused on building our local community and the team. Eventually we hope to expand it to numerous locations across the U.S. so we can provide hope and inspiration to as many people as possible.

What advice would you give to newly diagnosed women?
The best advice someone gave me was to take this journey in stages, one step at a time, otherwise it will be too overwhelming. Try to accept help from others—it’s good for you, your family and the people who want to support you.

 

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.

Breast Cancer – Not Just a Women’s Disease

Wednesday, October 03, 2012 12:58 PM comments (0)

October is Breast Cancer Awareness Month, and one fact many of us may not be aware of is that breast cancer can affect both women and men. Men, just like women, have breast tissue, thus making it possible to also develop breast cancer. Breast cancer is not very common in men, and most men who are diagnosed with it do not develop it until they are older (50 to 60 years of age). However, younger men can also develop breast cancer, making it very important to identify signs and symptoms. The incidence of breast cancer in men is very low. Yet, a strong family history of breast cancer, particularly in younger family members, increases the risk of breast cancer in men. In patients with a BRCA genetic mutation, the age of diagnosis is younger. If present, the lifetime risk of developing breast cancer in a man is approximately 6%.

David J. Winchester, MD, Breast Surgeon at NorthShore, identifies what men should look for to determine breast cancer:

  • A painless lump in the breast. This can be identified on a self breast exam.
  • Discharge from the nipple (may include bleeding).
  • Breast asymmetry.
  • Nipple retraction or deformity.

Breast cancer is often diagnosed at later stages in men. If you notice any of the signs listed above, plan to reach out to your physician for evaluation.

Are you surprised that breast cancer affects men? What other information would you want to learn about on the topic?

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