Publications
Insight, Winter 2006
Our winter 2006 issue explores genetic testing and the issues women face in choosing to test for the presence of a genetic mutation, a discussion of the needs of women living with advanced (metastatic) breast cancer and a profile of Phyllis Allen, a woman who become a breast cancer advocate to honor her grandmother, who died of the disease more than 50 years ago.
Table of Contents
Testing and Assessing Risk: The Role of Genetics in Breast Cancer
If you have been diagnosed with or have a family history of breast cancer, the possibility of genetic predisposition may have crossed your mind. How do you find out if the breast cancer in your family is inherited? And what role do genetics and family history play in your risk of developing the disease?
Sandy Brown (LBBC withheld Sandy’s name at her request), who lives in southeastern Pennsylvania, asked these questions immediately after her diagnosis in 1996 at age 44. Because she wanted more information to make the best possible decisions about her medical care, she looked into testing to find out if she carries one of the known breast cancer genetic mutations.
Genetic Mutations in Cancer
All breast cancers involve changes in genes, or mutations. Most people diagnosed with breast cancer do not have a family history, meaning their breast cancers are "sporadic"—the mutations occur after birth in a limited number of body cells.
Genetic, or hereditary, cancers account for between 5 percent to 10 percent of all breast cancers and are caused by a mutation present in all cells at birth—a defective gene passed on by either parent.
The two most common hereditary mutations linked to breast cancer are BRCA1 and BRCA2. Women with an inherited mutation in one of these genes have an estimated 60 percent to 80 percent lifetime risk of developing breast cancer, compared to about 13 percent of the general population.
The BRCA1 mutation is also associated with a 30 percent to 45 percent lifetime risk of developing ovarian cancer; with BRCA2, the lifetime risk is lower, between 10 percent and 20 percent. BRCA2 carriers are also at increased risk for developing male breast cancer, prostate cancer, pancreatic cancer and melanoma.
However, BRCA1 and BRCA2 only account for slightly more than half of all inherited breast cancers, says Noah D. Kauff, MD, FACOG, a gynecologist and geneticist at Memorial Sloan-Kettering Cancer Center in New York City. Other, less known genes associated with breast cancer include PTEN and P53, though mutations in these genes account for no more than 1 percent to 2 percent of inherited breast cancers.
Mutations in other genes, such as ATM or CHEK2, have also been shown to modify risk of breast cancer; however, because mutations in these genes are associated with relatively small changes in breast cancer risk, it is "not clear what, if any, role genetic testing has for these genes, because the presence of a mutation in one of these genes isn’t enough to explain or exclude cancer in an individual," says Dr. Kauff.
Also, unlike the BRCA genes, researchers have much less information about how these other genes encourage breast cancers to grow.
Researchers also have much to learn about why some women who test positive for the BRCA genes or other genetic abnormalities eventually develop breast cancer, while others do not.
To Test, or Not to Test
If you are considering genetic testing, meet with an American Board of Genetic Counseling (ABGC) board certified/eligible genetic counselor first. This trained health professional can interpret your family history of breast and ovarian cancer; discuss privacy and confidentiality issues; educate you on the risks, benefits and limitations of testing; help you decide what option is best if testing is needed; interpret your test results accurately and help you make decisions about prevention or treatment, says Ellyn T. Matloff, MS, director of cancer genetic counseling at Yale Cancer Center.
During the initial session, the counselor will take a detailed family history to help determine if the cancer in your family may be hereditary, and, if so, what genes may be involved. Among the factors that indicate a possible hereditary risk:
- A breast cancer diagnosis in the family at age 45 or younger
- A diagnosis before age 50 with a "triple-negative" breast cancer, meaning the cancer tests negative for estrogen and progesterone sensitivity and the overexpression of the HER2/neu gene
- Multiple family members affected by breast cancer on the same side of the family
- Ovarian cancer in the family
- Pancreatic cancer in the family
- The family is of Ashkenazi (Eastern European) Jewish descent. About 2.3 percent of Ashkenazi Jews have the BRCA1 or BRCA2 mutation—ten to 20 times higher than the general population
- A member of the family has had both breast and ovarian cancer or multiple breast cancers
- Male breast cancer in the family
- Medullary breast cancer in the family, where the border between the cancer tissue and the normal tissues is relatively well-defined (associated with BRCA1)
After analyzing these risk factors, your counselor will evaluate your family "pedigree" by looking at the patterns of possible gene mutations among family members, Ms. Matloff says. The pedigree may be consistent with a sporadic, familial or hereditary pattern. Familial patterns are likely the result of a complex interplay of genetic and environmental factors. Inherited patters are likely the result of a single gene mutation passed from one generation to the next. The counselor then does a risk assessment and decides what testing might be best for you and your family based on the results.
Going through genetic counseling does not commit you to having the test. Gwyn Hankinson, of Rochester, New York, underwent genetic counseling after finishing breast cancer treatment. She was diagnosed at age 34, four months after her mother’s diagnosis, and she wanted to know the risk factors for herself, her mother and her sisters.
She was still on the fence about having the test after her doctor estimated her chances of carrying one of the BRCA genes at 10 percent. But when the doctor asked how a positive result would impact her choices about her medical care, Gwen quickly made up her mind.
"I knew at this point in my life, I wouldn’t do anything different," Gwyn says. "If I did the testing and found out I was positive, it would only be an added worry for me."
Gwyn is glad she went through the counseling process. "It is beneficial because you can get all your questions answered by a professional," she says. "If I had never gone to the counseling, it would still be gnawing at me in the background. It gave me a comfort level, and a peace of mind."
Sandy made a different decision after undergoing genetic counseling in November 2005. After researching Sandy’s family history, the counselor determined that her father’s prostate cancer and grandmother’s early death of unknown causes could have a hereditary link.
Sandy decided to do the testing the same day. She wanted to determine whether her children might carry that gene.
"I was raised in a family where information is power. Both my husband and I felt strongly that we needed the information for our daughter," Sandy says.
Emotional Impact
Knowing your BRCA status can be empowering, whether you receive a positive or a negative result. The testing process can help you identify risk, choose medical options to lower your risk or detect the disease at an early stage, enabling you to participate in research studies. It can also help your family members make decisions about genetic counseling and testing.
A positive result can bring relief from uncertainty and allow you to make informed decisions about your future. After testing positive for BRCA2, Sandy felt armed with the information she needed to move forward. She decided to have prophylactic (preventive) surgery to remove her healthy breast. Since she was done having children, she also decided to have a prophylactic oophorectomy, reducing her risks for developing ovarian cancer by more than 90 percent. The result also prompted her adult daughter to consider genetic counseling and testing.
Some women who test positive feel anxious, depressed or angry because they have a more specific knowledge about their risk. Even if they choose a surgical intervention, they will never entirely eliminate risk, because surgery doesn’t get rid of every breast and ovary-related cell. And since a positive result only provides information about risk, the uncertainly can be overwhelming.
"There is also a difference between finding out you have a diagnosis of breast cancer as opposed to a predisposition for breast cancer," Dr. Kauff says. "One becomes like a sword hanging over head, even though you’re still healthy. It can have different affect psychologically."
Women with a negative result may not feel completely relieved. There may be up to 10 percent of people who carry a BRCA1 or BRCA2 gene mutation that current testing evaluation methods miss. A negative test is only truly negative if another family member who had breast or ovarian cancer also tests negative.
Potential benefits of a negative result include a sense of relief and elimination of the need for special preventative checkups, tests or surgeries. However, in the setting of a strong family history, a negative test doesn’t mean a person is not at risk; rather, it helps tailor risk reduction strategies.
Ginny Mason, of Goshen, Indiana, underwent genetic counseling after her daughter was diagnosed with ductal carcinoma in situ (DCIS) in 2003 at age 27. At the time, Ginny, 50, was nine years from a diagnosis of inflammatory breast cancer. Because both she and her daughter had breast cancer at a young age, the counselor suggested that Ginny undergo testing.
Even though no known mutation was discovered, Ginny’s counselor and doctor still believed her cancer might be hereditary. Because of Ginny and her daughter’s young age at diagnosis, they talked extensively about reproductive health issues and recommended intensive surveillance and screening.
"I was a little disappointed that I tested negative, because I wanted to understand why and get a sense of what risks my granddaughters have," Ginny says. "However, I did gain a better understanding of what kind of follow-up I needed to do."
Just because one family member has an abnormal gene does not mean all family members will. A negative result can trigger "survivor guilt" for those who tested negative but whose family members did not.
Genetic testing also has limitations. The test identifies the two common genes, but it cannot tell whether you actually will develop breast or ovarian cancer. Many women also fear discrimination by health insurers or employers, although studies have shown such fears to be unfounded.
The key is to have an appropriately trained and experienced genetic professional to help you deal with the advantages and limitations of testing, both medical and psychosocial. "Each woman is different, and this is true with or without a cancer diagnosis. A counselor or geneticist can help address specific concerns, whether or not a woman has had cancer herself or a strong family history," says Dr. Kauff.
Medical Options
Genetic testing requires a simple blood test, and many insurance plans will cover the cost. It usually takes several weeks to get the results. Afterward, your genetic counselor can help you interpret them, discuss a management plan and give referrals.
If you receive a positive result, you can take time to decide about next steps. Talk with your doctors and genetic counselor. They may discuss the following options:
- Monitoring, also called surveillance, is the least invasive option. It means keeping close track of your breast health for changes. Methods include clinical breast exams every six months, annual breast MRIs, a mammogram every year and self breast exams (BSE) every month. A positive test for one of the BRCA genes makes it far more likely your insurance company will help you pay for these tests. Your healthcare team also may recommend other screening tests, depending on your age and health history.
- Chemoprevention is using medicine to reduce your risk. The hormonal therapy tamoxifen is approved for this use; studies have indicated it can lower the risk of developing breast cancer in women with positive BRCA tests. Clinical trials are studying the effectiveness of other hormonal therapies for prevention, including raloxifene (brand name: Evista) and the aromatase inhibitors. However, researchers are still uncertain about the effectiveness of these medications in women with BRCA mutations. All these medicines have short- and long-term side effects, so be sure to discuss them with your healthcare team.
- Preventive (prophylactic) surgery is removing healthy tissue from the breasts or the reproductive system before cancer can develop there. Studies show that women who have prophylactic mastectomies can reduce the risk of developing breast cancer by more than 90 percent. In pre-menopausal women, removing the ovaries and fallopian tubes (a surgery called salpingo-oophorectomy) may reduce the risk of developing breast cancer by 50 percent and the risk of developing ovarian cancer by more than 90 percent, particularly important to prevent a disease that is very difficult to detect at an early and treatable stage. In some women a total hysterectomy may be recommended.
The decision to undergo surgery is very personal, and different women come to different conclusions based on life status, willingness to undergo surgery or ability to live with risk.
"The next era of research will come up with better methods of chemoprevention and screening to make them more viable alternatives than surgery." Dr. Kauff says.
Until then, genetic counseling and testing can help you take control of your life and risk, and hopefully reduce that risk, just as it did for Sandy Brown.
"It’s a personal decision, but I always felt that when you have to make an important decision, you make wisest choice when you have all the facts," Sandy says. "For me, it led to having testing to get the information and made choices from that process."
Survey Sheds Light on Experiences of Women with Advanced Breast Cancer
Last spring, LBBC launched an effort to discover and create programs, educational materials and support information specific to women living with advanced (metastatic) breast cancer.
Our first step was to design a survey, which we mailed and posted on lbbc.org from April 13, 2005, to May 13, 2005. That survey asked what information you most value, where you prefer to get it and in what formats you want to access it. We report on the results in Silent Voices: Information, Support and Practical Needs of Women with Advanced Breast Cancer, A Survey, an extensive paper now available at http://www.lbbc.org/news-detail.asp?section_tag=A&news_id=1044 or from our office.
We share some significant results below. If you are a woman living with advanced breast cancer or a healthcare professional, we hope this information will be the start of a dialogue about ways we can work together to improve the quality of your care and support.
Why LBBC Designed the Survey
With more treatment options available than ever before, more women with advanced breast cancer are living longer with a better quality of life. But many women report a large gap between the amount of services and information for early-stage breast cancer versus metastatic disease.
"It feels like we are passed by," wrote Shelly Slick, one of many women living with metastatic cancer who have contacted us over the years. "Our needs are not [given] anywhere near the amount of attention as early detection, women going through first treatments, and being survivors. All of the advertisements and public information makes breast cancer seem like a disease that everyone recovers from and is a ‘survivor.’"
To bridge this gap, LBBC created a survey of 64 complex, multi-part questions. We expected only a small number of women would complete it. However, we received three times the number of responses we had hoped for—showing once again that women with advanced breast cancer want advocates and healthcare professionals to do better at serving your needs.
What You Said, and What You Can Do
Ninety-six percent of you considered programs on current treatments and emerging research very important, and 95 percent of you rated programs on symptoms and side effects very important.
However, 29 percent of you—almost one-third of you—didn’t know whether programs focusing on current treatments were available, and 32 percent of you did not know where to access programs on emerging research. Similarly, 23 percent of you did not know whether programs on symptoms and side effects were available.
What this means for you. If you aren’t sure where to find educational programs, call us on our Helpline at 888.753.5222 to ask for help in finding a program local to you. If we can’t find the answer, we will help you contact someone who can.
You can also log onto lbbc.org to find the latest news, programs and links to other organizations. If you are familiar with LBBC offerings, make sure to tell other women about our teleconferences, conferences and networking meetings.
Even though you rate consumer and scientific conferences highly, many of you do not attend these types of events often.
What this means for you. Advocacy groups like LBBC want you to attend our conferences, since the material is designed especially for you. Some scientific and professional organizations are pleased to host "regular people" at their events as well.
If you want to attend a conference but have financial barriers, you still may be able to attend. The conference organizers may offer scholarships or may be willing to waive your fee.
Call the organization hosting the conference, or check their website online for scholarship information or relevant contact information. If you need help, call us and we’ll walk you through it.
A clear majority of you reported that you find it very helpful to listen to or read about other women’s experiences with advanced breast cancer.
What this means for you. LBBC’s Helpline volunteers are standing by. If you want to talk to another woman with advanced breast cancer about her experiences, don’t hesitate to call 888.753.5222.
If you prefer to read about or communicate in writing with others, visit the advanced breast cancer portion of our website at http://www.lbbc.org/advanced-breast-cancer.asp. We host profiles and a message board, and we invite you to be profiled as well.
More of you turned to prayer and pets than counseling, volunteering, advocacy work, or art/music/dance therapy for your emotional support, and nearly three-quarters of you found prayer and pets more effective than other forms of emotional support.
What this means for you. This is especially important news for those of you who live outside a partnership or who do not choose to seek emotional support in cancer support groups. It shows you have a variety of traditional and non-traditional choices to find comfort and support.
If you are looking for support but don’t know where to find it, call us and we can help you. We also want to make sure you know where to turn and how to get support through the more "traditional" means should you want it. We can help you brainstorm ways to break down any barriers that exist to your accessing these support systems.
You find emotional support in the use of educational information and information from emotional support programs, like in-person and online support groups.
What this means for you. LBBC recognizes that emotional support and education are both important to you. Upcoming LBBC programs and publications will blend information and resources in order to meet your needs.
Helping Providers
One of LBBC’s goals is to use the results from the survey to inform professionals and support organizations about what you need. You can help by sharing the following information from the survey results with your health provider or support professional:
The most frequently used sources of information on advanced breast cancer are patient books, brochures and handouts, used by 95 percent of survey respondents; government websites (for example, the National Cancer Institute website at cancer.gov), used by 78 percent of respondents; and medical journals, articles and books for healthcare professionals, used by 77 percent of respondents.
Of these, medical publications were rated the highest, with 67 percent rating them very good or excellent. Patient publications were judged least favorably.
Medical oncologists and oncology nurses are seen by the majority of respondents as more supportive than other healthcare professionals. Interestingly, fewer than half of respondents viewed mental health professionals as caring, respectful or taking time to address concerns.
Women responding to the survey preferred support groups to be led by a nurse or mental health professional rather than a layperson.
Half of all respondents prefer to access educational information online. They indicated that they liked the constant availability of information and appreciated being able to print it out and keep it for reference.
We will continue to provide information about survey results and create new programs over the next several months. For more information, please contact Ellyn Micco, LBBC’s program manager, at or 610.645.4567.
Profile: Phyllis Allen: How One Woman's Family History Led her to LBBC
Phyllis H. Allen of Upper Gwynedd, Pennsylvania, feels unstoppable. Since her breast cancer diagnosis in 2002, Phyllis, an attorney, has made it her mission to educate others about breast cancer and to break the silence surrounding the disease.
Phyllis’s passion is driven by more than just her own breast cancer diagnosis. When Phyllis was ten, she and her brothers anxiously awaited their grandmother’s return from a two-month stay in the hospital. The devastating news of their grandmother’s death came the morning after she was to come home—before Phyllis and her brothers had the chance to say goodbye.
"I went cold inside," Phyllis remembers. "I thought, ‘How could this happen, what do you mean?’ She was a ball of fire. I could not fathom how she could not be alive anymore."
Phyllis did not know until adulthood that her grandmother had died of breast cancer or that she had lived with her diagnosis for at least six years.
"People didn’t want to talk about it back then; they were afraid of it," Phyllis says. "People didn’t go to see the physician. My grandmother had a double mastectomy in the late 1940s, but my parents didn’t want to talk about it."
Phyllis says her grandmother’s history left her waiting for her own diagnosis. Five years ago, at age 54, Phyllis discovered a lump in her breast. Further testing revealed aggressive breast cancer.
Phyllis says she felt like she had been "kicked by a horse," but a calm soon fell over her. She decided that her breast cancer experience would have little in common with her grandmother’s.
"I am a forthright person," she explains. "I wanted to talk about it and have everyone learn about it as I went through it. I thought, ‘Okay, I have a mission here. I need to make sure that everyone is on board.’"
Phyllis underwent a lumpectomy and sentinel node biopsy followed by chemotherapy treatment and radiation therapy. The treatments caused nausea, fatigue and hair loss, and her teeth and nails became brittle. The tamoxifen Phyllis took after completing initial treatment caused severe hot flashes.
Always determined, Phyllis found ways to cope with these side effects. Listening to tapes of comedians during chemotherapy treatments distracted her from her discomfort. She took granisetron (brand name: Kytril), an anti-nausea medication, and sewed colorful cloth into head wraps to match her business suits. She found relief from hot flashes by switching to the hormonal therapy anastrozole (brand name: Arimidex) after a conversation with her physician.
During her treatment, Phyllis’s immediate family provided unconditional support. She wanted them to understand breast cancer, so she talked about her treatment as much as she could. Still, some family members struggled with her diagnosis. Phyllis’s brothers did not call for five weeks after she told them about her breast cancer.
"I think they were so scared because of the impact of our grandmother’s illness," Phyllis says. "You have to tell children the truth. They were so affected by [our grandmother’s] sudden death. I reassured them that I was sticking around."
After completing initial treatment, Phyllis returned to her job as a trust officer at a bank. Her employers were accommodating, but when she learned that African-American women have a 40 percent higher breast cancer mortality rate than white women, Phyllis made a life-changing decision.
"I said to my husband, ‘I can’t do this [work] anymore. I have to get out and talk to our people about breast cancer.’"
A friend sent Phyllis a copy of LBBC’s publication Getting Connected: African- Americans Living Beyond Breast Cancer. Intrigued, Phyllis called Elyse Caplan, LBBC’s education director, and later became a Survivors’ Helpline volunteer.
"My grandmother was undone by the huge machines that were directed at her," Phyllis says. "I realized that I didn’t want anyone to be as uninformed or as afraid as she was."
Phyllis’s caring has comforted women throughout Philadelphia and beyond. On the Helpline, Phyllis uses her experience to help women from all walks of life, and she handles difficult situations with sensitivity. She has spoken to newly diagnosed women who say they are going to "place themselves in God’s hands." Phyllis reassures these women by explaining that doctors and nurses are "God’s agents on earth."
To give herself the best chance of getting good care, Phyllis says, a woman must speak openly with doctors and find a physician to whom she can relate. The Helpline means so much to Phyllis that she recently shared her experiences in a public service announcement promoting the service.
"[Working on the Helpline] is humbling," she says. "You deal with a lot of human pain. People cry and are scared. If you can get them to calm down and navigate cancer like an obstacle course, you know you’ve helped them cope with this difficult diagnosis."
Phyllis trains nurses and social service workers to use Getting Connected in educational settings and works to make healthcare providers aware of issues that can hinder treatment for some African-American women. When she attends health fairs on behalf of LBBC, young women approach her about their own family history of breast cancer, and she tells them about programs that help African-American women get a test for a breast cancer gene mutation.
"All my life I have been doing things that prepared me for this," Phyllis says. "I have a big mouth, and now I am able to use it for something that is very close to my heart and that I am personally invested in. I am trying to reconcile my frustration and the unfairness of having my grandmother taken from me. If I can prevent people from having that experience, I will feel that what I am doing is worthwhile."
Would you like to be considered for a Survivors’ Profile? Send a short description of your experience to .
