Should You Get Tested For The Breast Cancer Genes
Do you have a family or personal history of breast cancer? If so, its important to learn if and when you should get gene testing
Superstar Angelina Jolies shocking decision to obtain a preventative bilateral mastectomy drew great attention and headlines towards the gene cancer testing that more women are contemplating to prevent breast cancerthe most common cancer in women in the United States.
When my own sister was diagnosed with breast cancer several years ago, I watched her experience each phase of this taxing illness with a very different patient perspective. And yet, people are still confused surrounding breast cancer gene testing. My sisters general surgeon attempted to seek insurance approval for her to get gene testing, given her rather young diagnosis in her 40s, but was denied. My sister was baffled: why would the insurance companies deny such an importance piece of information that can possibly help her other three sisters given her young age of diagnosis with breast cancer?
Its not always so simple. Let me explain what the process of breast cancer gene testing really entails.
Where Can I Get Breast Cancer Screening
Mammograms and MRIs are usually done at a diagnostic imaging center, which is a building where X-rays and other medical scans are done. Some centers will focus just on womens health issues. To find the best center for you, contact your insurance company to see which location near you is in your network and will be covered by insurance.
If you dont have insurance or it doesnt cover breast cancer screening, you can use the CDCs National Breast and Cervical Cancer Early Detection Program to find a free or low-cost option near you.
Harms Of Early Detection And Treatment
Primary Screening With Conventional Mammography
Screening mammography has several potential harms. The most common is a false-positive result, which can lead to psychological harms, as well as additional testing and invasive follow-up procedures. Studies show a fairly consistent association between a false-positive screening mammogram and increased breast cancerspecific distress, anxiety, and apprehension, particularly in women who have an associated procedure, such as fine-needle aspiration or breast biopsy. These effects improve over time for most women.2, 4Table 5summarizes BCSC data on the cumulative probability of a woman receiving at least 1 false-positive mammogram or a recommendation for what turns out to be a false-positive biopsy over a 10-year period.39
Primary Screening With DBT
Currently, DBT is most frequently performed in combination with conventional digital mammography this practice essentially doubles the resulting radiation exposure to the patient. The U.S. Food and Drug Administration has approved a method to generate synthetic reconstructions of 2-dimensional images from 3-dimensional views, which reduces the total radiation dose emitted. However, study data on the performance of DBT in isolation is limited to 1 mammography reading study that compared sensitivity and specificity and 1 prospective clinical trial,42 and the method is not yet thought to be in widespread clinical use.
Adjunctive Screening in Women With Dense Breasts
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Estimate Of Magnitude Of Net Benefit
Digital breast tomosynthesis is an emerging technology for breast cancer screening. Preliminary evidence suggests that it can reduce recall rates for false-positive results and detect more cancer compared with conventional digital mammography. However, it may increase breast biopsy rates, and as currently practiced in most settings, DBT exposes women to more radiation than conventional 2-dimensional mammography. It is not clear whether all of the extra cancer cases detected by DBT actually represent a benefit . Most importantly, no studies assessed the effect of DBT on important health outcomes for women, such as quality of life, morbidity, or mortality. Finally, increased breast density is a common condition that imparts some increased risk for breast cancer, and it reduces the test performance characteristics of mammography as well. Current evidence on the use of adjunctive screening in women with increased breast density is not sufficient to recommend a specific screening strategy. These are important areas for future research.
How Can I Detect My Breast Cancer Early
The best way for young women to find breast cancer early is to be breast self-aware. Become familiar with your breasts: their shape, size and what they feel like. Learn what is normal for you. Sometimes your breasts may change throughout your monthly cycle. If you are pregnant or nursing, your breasts will change even more dramatically. If you find anything unusual, see your doctor immediately and insist on a diagnosis. In general, women should have a yearly clinical breast examination by a doctor beginning at age 20 and start having annual mammograms beginning at age 45.
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Breast Cancer Screening Patient Version
On This Page
Screening is looking for signs of disease, such as breast cancer, before a person has symptoms. The goal of screening tests is to findcancer at an early stage when it can be treated and may be cured. Sometimes a screening test finds cancer that is very small or very slow growing. These cancers are unlikely to cause death or illness during the person’s lifetime.
Scientists are trying to better understand whichpeople are more likely to get certain types of cancer. For example, they look at the person’s age, their family history, and certain exposures during their lifetime. Thisinformation helps doctors recommend who should be screened for cancer, whichscreening tests should be used, and how often the tests should be done.
It is important to remember that your doctor does not necessarilythink you have cancer if he or she suggests a screening test. Screeningtests are done when you have no cancer symptoms. Women who have a strong family history or a personal history of cancer or other risk factors may also be offered genetic testing.
If a screening test result is abnormal, you may need to have more tests done to find out if you have cancer. These are called diagnostic tests, rather than screening tests.
See the following PDQ summary for more information about cancer screening:
Screening For Breast Cancer With Methods Other Than Conventional Mammography
| Screening Method | Primary screening with DBT | Adjunctive screening with breast ultrasonography, MRI, DBT, or other methods in women who have dense breasts |
|---|---|---|
| Recommendation | ||
| Benefits | From the limited data available, DBT seems to reduce recall rates and increase cancer detection rates compared with conventional digital mammography alone. | Limited data suggests that ultrasonography or MRI will detect additional breast cancer in women who have dense breasts. DBT also detects additional breast cancer in the short term. |
| Harms | As currently practiced in most settings, DBT exposes women to about twice the amount of radiation as conventional digital mammography. Current study designs cannot determine the degree to which the additional cases of cancer detected would have become clinically significant . | Most positive adjunctive breast cancer screening test results are false positive. |
| Balance of Benefits and Harms | Evidence is insufficient, and the balance of benefits and harms cannot be determined. | Evidence is insufficient, and the balance of benefits and harms cannot be determined. |
For a summary of the evidence systematically reviewed in making these recommendations, the full recommendation statement, and supporting documents, please go to .
- View the Clinician Summary in PDF
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What To Expect From A Mammogram
Your mammogram will be performed by a technician specially trained in mammographic positioning and techniques. The mammographer uses a special, low dose X-ray machine to create an image of the breast tissue. The machine has platforms or paddles used to compress the breast. It can detect lumps that are too small to be felt.
Compression of the breast is sometimes uncomfortable. However, it is very important as it spreads and flattens the breast tissue. This ensures a clear view of the breast tissue and reduces the amount of radiation needed to make an image.
Your breast will be compressed for 20 to 30 seconds. A radiologist will review your X-rays and send your referring health care provider a report of the findings.
Your mammogram images will be sent to a radiologist who will inspect them carefully to see if there is any reason for concern or more testing.
It is not uncommon for your first mammogram to have suspicious findings, since there are no previous mammograms that can be used for comparison. Most suspicious findings are nothing more than cysts or spots of dense tissue. Occasionally suspicious findings are the result of an unclear image.
An additional mammogram to evaluate a trouble spot is called a diagnostic mammogram. It will focus on the problem area. In some cases, a breast ultrasound may be recommended.
Screening In Women Aged 75 Years Or Older
The USPSTF found insufficient evidence to assess the balance of benefits and harms of screening mammography in women aged 75 years or older. CISNET models suggest that biennial mammography screening may potentially continue to offer a net benefit after age 74 years among women with no or low comorbidity,7, 8 but no randomized trials of screening included women in this age group.2, 3
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There Are Three Screening Methods
There are three types of tests that may be used to screen for breast cancer.
Clinical Breast Exam A CBE is a physical exam of your breast and underarm area by a health care provider. Its often done during your regular medical check-up. A CBE should be performed by someone whos trained in the techniquenot all health care providers have this training. If your doctor doesnt offer you a CBE at your check-up and you would like one, ask if he or she can perform one or refer you to someone who can.
MammogramMammography uses X-rays to make images of the breast . While some tumors in the breast are aggressive and grow quickly, most grow slowly. In some cases a tumor may have been growing for as long as 10 years before it creates a lump large enough to feel. Mammography can find cancers early, before you would have noticed any signs or symptoms. Thats why its often used as a screening test. It can also be used as a follow-up test . If youve noticed a change in your breast and are getting a mammogram, tell the technologist what you noticed before your exam. If you evernotice a change in your breasteven if youve had a mammogram recently and had normal resultsget checked out by a doctor asap. And if youve never had a mammogram before, heres everything you wanted to know .
What Is A Mammogram
A mammogram is an x-ray picture of the breast. Mammograms use a very low level of x-rays, which are a type of radiation. The risk of harm from this radiation is very low.
Mammograms can be used to screen for breast cancer in women with no signs or symptoms. They can also help doctors figure out if cancer is causing a particular symptom like a lump or another change in the breast.
When you get a mammogram, a technician will place your breast between 2 plastic plates and press it flat to get a clear picture. Getting a mammogram can be uncomfortable, but it doesn’t last long.
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For Women Who Have Had Mantle Radiation:
- a clinical breast exam every six months beginning at the time of your radiation treatment
- an annual mammogram starting eight years after your radiation treatment
- possible annual breast MRI
All women at above-average breast cancer risk should speak with their doctor about additional screening tests, perform a monthly self breast exam, and become familiar with their breasts so they are better able to notice changes.
MSK offers a comprehensive program for women at increased breast cancer risk, including regular breast exams and imaging. It allows any developments to be identified and dealt with right away.
Research Needs And Gaps
Trial data are too limited to directly inform the question of what the best screening strategy is for women or how clinicians can best tailor that strategy to the individual.
Overdiagnosis and resulting overtreatment of breast cancer that would otherwise not have become a threat to a womans health during her lifetime is the most important harm associated with breast cancer screening. Because it is impossible to determine for any individual patient whether a diagnosed cancer will or will not progress, measurements of overdiagnosis are not straightforward but rather are indirectly quantified. Current estimates of the magnitude of overdiagnosis associated with mammography screening vary widely. Researchers in the field must work together to critically evaluate and ultimately agree on uniform definitions and standards to optimally measure and monitor overdiagnosis and overtreatment in breast cancer screening programs.
Most of the available screening trials and high-quality cohort studies were performed in Europe and predominately enrolled white women younger than age 70 years. Direct evidence about any differential effectiveness of breast cancer screening is lacking for important subgroups of women, such as African American women, who are at increased risk for dying of breast cancer, and older women, for whom balancing the potential benefits and harms of screening may become increasingly challenging with advancing age.
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Your Genes Can Say A Lot About Your Riskbut They Dont Tell The Whole Story
While these gene mutations clearly play a critical role in breast cancer risk, its also important to know that only 5-10 percent of breast cancer cases are related to genetic history. Not having BRCA1 or BRCA2 gene mutations doesnt mean youre not at risk for breast cancer, and you still should talk with your health care professional about the right breast cancer screening for you.
Want to learn more about BRCA1 and BRCA2? Read this fact sheet from the National Cancer Institute. You can talk with your health care professional about whether this test makes sense for you.
For more information about breast cancer prevention and early detection, visit preventcancer.org/breast.
Will Anything Change With My Cancer
Due to the COVID-19 pandemic and the increased risk of exposure to the virus, most hospitals and clinics have changed their visitation policies. Some may allow 1 visitor per patient, and others may allow no visitors. Masks and physical distancing are still required in health-care settings. Before heading to your medical appointment, check with the clinic or hospital for their current visitor policy.
Your cancer care team may conduct some of your appointments by telemedicine. During a telemedicine appointment, you can stay at home and visit with your doctor or other health care team member through video conferencing using your phone or computer. Your doctors office will give you instructions on how to have your visit this way. If you are interested in having a visit by telemedicine rather than in person, ask your doctor’s office staff if this is possible.
If community spread of COVID-19 in your area is high, your doctor may recommend delaying some treatments for supportive care, such as bone-strengthening treatments, for example, denosumab or zoledronic acid , or intravenous iron supplementation. They will only recommend delaying treatments if they feel it is in your best interest to do so.
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Benefits Of Mammographic Screening
The ACS systematic review also examined the effect of screening mammography on life expectancy. Although the review concluded that there was high-quality evidence that mammographic screening increases life expectancy by decreasing breast cancer mortality, the authors were not able to estimate the size of the increase 23.
What If You Are At High Risk For Developing Ovarian Cancer
There are lots of options, world-renowned gynecological oncologist Dr. Beth Karlan of UCLA Health tells SurvivorNet, however, they need to be individualized.
When speaking about Everts case specifically, Dr. Karlan says, when she found out, at age 67, that her sister had this mutation , she got tested, found she had too, acted on it, had the prophylactic surgery, and serendipitously was found to have a very early and likely curable ovarian cancer.
In a recent ESPN article, Everts diagnosis and what it took to get there is described in vivid detail. Her story, unfortunately, is not an uncommon one, but has a more positive outcome than most ovarian cancer patients because the disease is often caught too late. In Everts case, she is just stage 1.
While this is obviously an emotional and trying time for Evert and her family, she is sharing her story because, as she says, any information is powerful.
Be your own advocate, she tells ESPN. Know your familys history. Have total awareness of your body, follow your gut and be aware of changes. Dont try to be a crusader and think this will pass.
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Clinical Considerations And Recommendations
How should individual breast cancer risk be assessed?
Health care providers periodically should assess breast cancer risk by reviewing the patients history. Breast cancer risk assessment is based on a combination of the various factors that can affect risk Box 1610111213. Initial assessment should elicit information about reproductive risk factors, results of prior biopsies, ionizing radiation exposure, and family history of cancer. Health care providers should identify cases of breast, ovarian, colon, prostate, pancreatic, and other types of germline mutation-associated cancer in first-degree, second-degree, and possibly third-degree relatives as well as the age of diagnosis. Women with a potentially increased risk of breast cancer based on initial history should have further risk assessment. Assessments can be conducted with one of the validated assessment tools available online, such as the Gail, BRCAPRO, Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm, International Breast Cancer Intervention Studies , or the Claus model 34.
Is screening breast self-examination recommended in women at average risk of breast cancer, and what should women do if they notice a change in one of their breasts?
Should practitioners perform routine screening clinical breast examinations in average-risk women?
When should screening mammography begin in average-risk women?
How frequently should screening mammography be performed in average-risk women?