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:
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.
Currently 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.
When the fourth biopsy in four years revealed some of the cancerous cells were now more aggressive than during the previous four years of active surveillance, I found it very hard to accept that the other shoe had actually dropped. I'd been sailing along
with a Gleason 3 + 3, the least aggressive prostate cancer category. I hoped/believed the numbers would stay that way as I lived through the rest of my 70s and into my 80s and who knows how long from there. After all, my father had lived with prostate cancer
and died from unrelated issues at 86.
As with so many other men, I had the first biopsy after a PSA test suggested a possible problem. In my case the PSA had risen slowly over a decade from 1.4 to 3.7, but being 67 at the time and research changing some of the previous thinking about PSA levels
in older men, the initial urological surgeon and I decided a biopsy was a reasonable option.
My fears after getting the news from the fourth biopsy were:
Navigating My Treatment Options
The urologist who had been following me urged surgery (he performs robotic prostatectomy) and I provisionally scheduled the operation for six weeks hence. I needed time for the biopsy site to heal, digest the diagnosis, and collect and process more
As a dentist turned health reporter, my almost 40 years as a health journalist turned out to be a mixed blessing as I tried to intelligently navigate the daunting amount of often contradictory and confusing information, even for a health professional. I
discovered one of my greatest strengths as a reporter—the ability to thoroughly and unemotionally research virtually any health topic—failed me dismally because this time I was too emotionally involved. I would read the same sentence or paragraph over and
over or talk at great length to trusted sources and come away even more confused. Yes, get the cancer out. No, you can safely keeping watching. Surgery? Robotic or open? Radiation? But what type? Or perhaps one of the less tested treatment options? You can
imagine the toll this emotional roller coaster took on my family: Arline my wife of 41 years and my two sons.
Finding My Advocate: A Six Week Journey
As the six weeks dwindled to two, I still felt uncertain—and frightened—about my decisions and options. While agonizing on the phone one night with my older son he said, “Stop it, Dad! More than most, you are in a position to find one voice you can trust who
can guide you to a decision that you and mom can live with. Find that voice."
I did: Dr.
Charles Brendler, Co-Director of Northshore's John and Carol Walter Center for Urological Health. I was referred to Dr. Brendler by a close personal friend of mine, who is also a physician and serves as a department head at a major Chicago medical center.
He told me Dr. Brendler was the person he would see if he were in my position. Now I understand why.
During the nearly two hours Dr. Brendler spent with Arline and me, he painstakingly reviewed my medical records, gently and carefully examined me, and, for most of the two hours, engaged with us in heartfelt conversation. He reassured both of us, spoke caringly
about our feelings on the personal and intimate issues unleashed by prostate cancer and its treatment, and offered compassionate understanding and objective advice.
Three decisions emerged from our meeting. Two involved additional confirmation of the status of my prostate cancer, one via MRI (Dr. Brendler supported my desire to have the scan) and the other through a second opinion of the interpretation of my four biopsies.
The third and most important was the deciding to accept Dr. Brendler’s recommendation to see a urologic surgeon, who, because of his unparalleled skill in performing open prostatectomies, would be the best fit for me.
When Arline and I exited Dr Brendler's office and walked through the parking lot, we looked at each other and breathed the first sigh of relief in more than a month because we knew we had found peace with my prostate cancer journey. We followed through on
each of the decisions and three weeks after our fateful meeting my prostate was removed by the surgeon Dr. Brendler recommended. The cancer was locally contained and completely removed.
Thanks to active surveillance, I had four years without treatment. And thanks in large part to Dr. Brendler, I remain totally continent and am on the road back to sexual function seven months post-surgery. I’m grateful beyond words that when my son urged
me to find the one voice I could trust, the voice I heard was Charles Brendler's.
Many typically associate cancer with a specific part of the body, like the breast, prostate or colon; however, it can develop
and affect more just a part of the body. Approximately 43,000 people are diagnosed with leukemia each year. Leukemia is a cancer of the blood and bone marrow. Blood cells, both white and red, are made in bone marrow. With leukemia, bone marrow produces an
abnormal amount of white blood cells, which cannot function like normal white cells. As the disease progresses, the accumulation of these abnormal cells can cause anemia, bleeding, infections and eventually could spread to other areas of the body.
Leukemia can develop in both children and adults, and is the most prevalent cancer found in children under 14 years old. Depending on the type of leukemia, symptoms may become apparent almost immediately or gradually develop and become more noticeable over
the course of months or even years. Treatment plans will vary depending on the type of leukemia, as well as your age and current health.
Alla Gimbelfarb, MD, Hematology at NorthShore, identifies some of the signs and symptoms of leukemia that many overlook :
Has leukemia touched someone in your family? During National Leukemia/Lymphoma Month help raise awareness about its signs and symptoms.
Smoking is an unhealthy habit that can be hard to break. While we’ve all heard of the many ways quitting can be made possible—cold turkey, medications, nicotine patches and gum, or therapy—it often comes down to one’s determination and ability to make changes.
It is important to understand that it is never too late to quit smoking. Even if you’ve tried to quit before and haven’t accomplished it, you can still find success quitting in the future. Stacy Raviv, MD, a NorthShore pulmonologist, gives her insight on
how quitting can improve your health:
Have you tried to quit smoking? What methods worked for you? What didn’t?
September 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:
Carolyn Kirschner, MD, Gynecological Oncologist at NorthShore, identifies some strategies available for women:
Have you known someone with ovarian cancer? Do you know if it’s in your family history?
Cancer is hard on everyone—families, friends and especially on the individual—even if the outcome is successful. As advances in cancer treatments have led to more cancer survivors, the necessity for supporting and nurturing survivors through the end of treatment
and their cancer experience is necessary.
Carol Rosenberg, MD, Director of NorthShore’s Preventive Health Initiatives and Living in the Future (LIFE) Cancer Survivorship Program, provides the following tips to
help cancer survivors and their loved ones navigate the end of their battle with cancer. These help to ensure quality of life and long-term health:
Are you or someone you know a cancer survivor? What changes to your or their lifestyle have been made? What words of wisdom do you have for others?
Additional resources and useful information for survivors are offered on a monthly basis at the MRW Survivorship 101 seminars offered through NorthShore’s
Living in the Future (LIFE) Cancer Survivorship Program. These monthly educational workshops address major topics such as a lifestyle, psychosocial issues, genetics, and insurance and employability.