- Genetic Testing: Families With Breast Cancer Center
- Breast Cancer Slideshow
- Take the Breast Cancer Quiz
- Breast Cancer Screening
- Who should get genetic for breast cancer genes?
- What are the facts about families that have multiple members with breast cancer?
- How do you decide whether she should get genetic testing?
- Women at risk for a genetic breast cancer disorder must understand what the genetic testing process involves.
- What about the many women who do not fit the pattern of a genetic breast cancer disorder? How worried should they be?
Who should get genetic for breast cancer genes?
Ms. G. is a 40-year-old woman with two small children. Like most women, she is concerned about her chances of developing breast cancer. She asks her doctor about her risks. Although breast cancer is a worry for most women, Ms. G. is especially worried because of a family history of breast cancer. Her mother and sister had breast cancers that were diagnosed at young ages.
A woman with a family history of breast cancer has a lot of concerns. Among other things, she is thinking of her job, children, and husband, as well as how her medical insurance and health team will be able to serve her needs in the future should she be diagnosed with breast cancer.
What are the facts about families that have multiple members with breast cancer?
Overall, inherited breast cancer disorders account for a small minority of breast cancers. Genes are the "messages" in each cell of the body that determine the ultimate design of our bodies. Genes can be damaged by the environment. Additionally, people can be born with defects in the genes that remove the body's defenses against cancers. Only in about 10% of all breast cancer cases is there actually an inherited genetic defect that can be detected by testing. In fact, most cases of breast cancer occur in women who do not have a family history of breast cancer. A complex interplay between environmental and genetic factors affects the development of breast cancer, and all the key factors have not yet been identified.
How do you decide whether she should get genetic testing?
The whole issue of genetic testing for breast cancer is complicated. Recent research indicates that the information women seek most often when they request genetic testing does not match what they can realistically determine from this testing. Nevertheless, it is worthwhile to consider the role of this testing and what it involves.
Certain characteristics make a woman at higher risk for genetic breast cancer disorders. These factors include:
- family members with breast cancer, especially at a young age;
- breast cancer in a male family member;
- both breast and ovarian cancer in the family;
- bilateral breast cancer in a single family member;
- breast cancer diagnosed at very young ages; and
- being of Ashkenazi Jewish descent.
Ms. G. and her doctor determine that she falls within the group with higher risk factors because her sister and mother both had breast cancer at young ages.
Quick GuideBreast Cancer Diagnosis and Treatment
Women at risk for a genetic breast cancer disorder must understand what the genetic testing process involves.
First, an expert reviews the family medical history to evaluate what sort of pattern of genetic breast cancer may be occurring. Next, the family member's tumor sample, if available, undergoes testing. It is impossible to run tests to analyze every single gene in a woman. Therefore, the nature of the specific disorder is narrowed by testing of the specific tumor from an affected family member. The tests are designed to determine if any of the known inherited genetic breast cancer genes is present. If the defect is found on the tissue sample of the woman's relative, the lab will then know exactly which defect should be tested in the blood sample of the woman herself. In this way, a woman will be able to be counseled about her own risk. Counseling, education, and emotional support are provided both before and after any testing, no matter what the result.
Prior to undergoing testing, it is essential that women consider the benefits and risks in light of the possible results. For example, if her test is positive (meaning she is affected by a genetic disorder) there are measures that can reduce her breast cancer risk. One of these is having breast tissue surgically removed, knows as prophylactic mastectomies. This is an unpleasant prospect for many women. Removal of the ovaries also appears to be helpful in reducing risk. Tamoxifen (Nolvadex) and raloxifene (Evista) are two members of the class of drugs known as selective estrogen receptor modulators (SERMs) that have been shown in clinical trials to be effective in preventing breast cancer in women at high risk for the disease, but there are fewer data available on their effects in women who are BRCA mutation carriers. There have been no studies that show that tamoxifen actually prolongs survival in women at high risk for breast cancer, and rare but serious adverse events (uterine cancer, blood clots) have been reported. Raloxifene has been tested and shown to be effective in preventing breast cancer in postmenopausal women but its effectiveness is unknown in younger women. There are no medications specifically approved for use in reducing the risk in women with genetic mutations (BRCA genes) that are known to increase susceptibility to breast cancer.
While Ms. G. is considering these surgery options, she must also decide a variety of issues such as:
- whom she would tell,
- whether her own children should be tested, and
- how her health insurance and/or job will be affected.
The Genetic Information Non Discrimination Control Act of 2008 and the Affordable Care Act of 2010 have lessened concerns about insurers taking away insurance based on genetic testing. If she does not desire to inform anyone about a positive test and would not consider having surgery, then perhaps she may not want to be tested in the first place. On the other hand, what if the test results for Ms. G. are negative? This may be a relief. However, there is also the frustrating fact that even if a woman has a negative genetic test, she is still at higher risk for breast cancer than the general population due to the risk factor of having multiple family members with breast cancer. Another possibility with genetic testing is that a non-typical alteration in a breast cancer-related gene is detected, the significance of which is unclear.
What about the many women who do not fit the pattern of a genetic breast cancer disorder? How worried should they be?
Although most women who are surveyed think breast cancer is the leading cause of death in women, heart disease is actually the leading cause of death in women. Heart disease kills one out of two women, far in excess of the number of deaths caused by breast cancer. Breast cancer occurs in nearly 240,000 women each year, but only about 40,000 die of it each year. It is important to keep the perspective that most women who have only one family member with breast cancer should actually be more concerned with discussing heart disease prevention with their physicians than breast cancer prevention.
In conclusion, any woman in Ms. G.'s situation needs to talk to a doctor who is specially educated to counsel high-risk women regarding if and when they should be tested and how to act on the different test result scenarios -- all prior to testing. There is further counseling after testing, whether results are positive or negative. Research is progressing rapidly, with the results of new studies coming out all the time.
Medically reviewed by John A. Daller, MD; American Board of Surgery with subspecialty certification in surgical critical care
"BRCA1 and BRCA2: Cancer Risk and Genetic Testing."
National Cancer Institute. 29 May 2009.
Daily Health News
Subscribe to MedicineNet's Cancer Report Newsletter
"BRCA1 and BRCA2: Cancer Risk and Genetic Testing."
National Cancer Institute. 29 May 2009.
Genetic Testing for Breast Cancer - Patient Experience
Did you get genetic testing to determine your breast cancer risk? Please tell us about your experience.Post
Top Genetic Testing Families With Breast Cancer Related Articles
Bone Marrow Transplantation for Breast CancerBone marrow transplantation may be performed after a woman undergoes high-dose chemotherapy for breast cancer. High-dose chemotherapy kills blood cells as well as cancer cells. Bone marrow transplantation involves harvesting stem cells from the bone marrow and infusing them back into the patient to stimulate the growth of new blood cells. The patient must remain isolated until the new bone marrow begins to grow.
Breast Cancer (Facts, Stages)Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast self-examination (BSE), biopsy, and specialized testing on breast cancer tissue. Treatment of breast cancer may involve surgery, radiation, hormone therapy, chemotherapy, and targeted therapy. Breast cancer risk may be lowered by managing controllable risk factors.
Young Women & Breast CancerIs breast cancer genetic? Should I get tested for the BRCA gene? What every young women should know about breast cancer. Discover the signs and symptoms of breast cancer and other crucial breast cancer facts.
Breast Cancer Follow-Up Self-ExamA breast cancer follow-up self-exam is a test that may help a woman detect a recurrence of the disease. A woman should perform a monthly self-exam of both breasts as well as attend scheduled follow-up appointments to detect any breast cancer recurrence early. Lymph node involvement, tumor size, hormone receptor status, histologic grade, nuclear grade, and oncogene expression help determine the likelihood of a recurrence.
Breast Cancer in Young WomenAbout 5% of cases of breast cancer occur in women under the age of 40 years old. Some risk factors for breast cancer in young women include a personal history of breast cancer or breast disease, family history of breast cancer, prior radiation therapy, and the presence of BRCA1/BRCA2 gene mutations. Breast self-exams, clinical breast exams, and screening mammograms may help detect breast cancer. Treatment may include surgery, chemotherapy, radiation, and hormone therapy.
Breast Cancer SlidesLearn about breast cancer causes, symptoms, tests, recovery, and prevention. Discover the types of treatments such as surgery and drug therapies as well as the survival rate for breast cancer.
Breast Cancer PreventionLifestyle changes, a healthy antioxidant-rich diet, exercise, and weight reduction can help reduce a woman's risk of developing breast cancer. It's important to be aware of how risk factors such as family history, lifestyle factors, breast conditions, radiation therapy, and hormonal factors may influence your chances of developing breast cancer. Mammography and breast self-examinations are crucial steps in breast cancer prevention.
Breast Cancer QuizThis Breast Cancer Quiz features signs, symptoms, facts, causes, common forms, terms, risk factors, statistics, and more. Increase your awareness of breast cancer now!
Chemotherapy Treatment for Breast CancerChemotherapy refers to medications that are administered to kill or slow the growth of cancerous cells. Chemotherapy may be given orally or intravenously. Side effects of breast cancer chemotherapy may include nausea, vomiting, hair loss, increased risk of infection, fatigue, and easy bruising. Receiving chemotherapy causes changes in a woman's menstrual cycle.
Estimating Breast Cancer RiskAs breast cancer is the most diagnosed non-skin cancer in American women, it is important to know your breast cancer risk. Risk factors include age, age at menarche, age at first live birth, history of breast abnormalities, breast biopsies, race, and history or breast cancer among first-degree relatives.
Genetic Testing for Breast CancerIntensive genetic counseling is required before undergoing genetic tests for breast cancer. During this educational counseling session, the health care provider can fully explain the benefits and risks of genetic testing and answer any questions you may have. You will also be required to sign a consent form prior to participating in any genetic tests. The form is an agreement between you and your doctor, showing that you have discussed the test and how its results might affect your family.
Nature vs Nurture Theory Genes or Environment
In the nature vs. nurture debate, "nature" represents our genetic makeup. These are the genes you have inherited from your biological family, and that may affect your physical and mental health, for example, intelligence, disease, and psychological health. While "nurture" represents how our environment effects our intelligence, traits, personality, and mental and physical health. Studies have shown that a person's environment can alter his or her genes, and lower their risk of developing certain inherited diseases, conditions, and mental illnesses that run in his or her family.
Hippocrates studied and theorized how our biology affected our overall health and disease development. In 1869, Sir Francis Galton was credited for the term "Nature vs. Nurture Theory." Today it is widely recognized that both your genes and your environment effect both your physical and mental health.
Researchers and doctors have found that particular physical traits like eye and skin color, and diseases like Huntington's chorea are the result of genetic inheritance (inherited from a family member). However, patterns of thinking and behavior can be attributed to both nature and nurture (your genes and your environment). Moreover, researchers who study the brain have found overwhelming evidence that a person's genetic factors and his or her experiences guide and support brain development. The human brain produces new nerve cells (neurons) into adulthood, and these nerve cells can change the strength of their connections throughout life, which can effect intelligence and other factors. Research also has shown that sensory input (sights, smells, sounds, touch, etc.) has a critical in the role of brain development in the first few days of our lives, and probably throughout our life.
The controversy over how much our genes and environment effect our psychological and physical health still continues, however.
NCBI. PubMed.gov. Brain development and the nature versues nurture debate. Prog Brain Res. 2011;189:3-22. doi: 10.1016/B978-0-444-53884-0.00015-4.
NCBI Resources. Institute of Medicine (US) Forum on Neuroscience and Nervous System Disorders. Washington (DC): National Academies Press (US); 2008.
Radiation Therapy for Breast CancerRadiation refers to high-energy rays that are directed at the breast to kill or slow the growth of cancer cells. Radiation reduces the risk of local cancer recurrence in the breast. Potential side effects include skin redness, swelling, peeling, and fatigue. It is necessary to undergo follow-up exams and diagnostic X-rays after completing radiation therapy for breast cancer.
Treatment of Breast Cancer by StagesTreatment of breast cancer depends upon the stage of the cancer at the time of diagnosis. Some of the various treatments include:
- hormone therapy,
- radiation therapy,
- HER2-targeted therapy,
- neoadjuvant therapy, and
- adjuvant therapy.