Breast cancer screening and available treatment options are often in the news. Here, UC San Diego’s breast cancer physicians and genetic testing experts discuss the issues. Answers were provided by:
Sarah Blair, MD, surgical oncologist
Teresa Helsten, MD, medical oncologist
Lisa Madlensky, PhD, director, Family Cancer Genetics Program
Anne Wallace, MD, director, Comprehensive Breast Health Center
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Breast cancer screening
Dr. Wallace: Three major organizations – the American Cancer Society, the American College of Radiologists and the Society of Surgical Oncology – all still recommend that a woman get a baseline mammogram at age 40, or sooner if she is considered higher risk. Follow-up mammograms should be every year after that.
Dr. Wallace: Those results were based on statistics, some valid, some arguable. The researcher weighed risk-benefit ratio and concluded that the number of lives saved between 40 and 50 did not justify the aggravation or level of worry that screening mammography and possibly unnecessary biopsies may cause. The researchers did not refute that there is some survival with large numbers of women screened between 40 and 50.
On the other hand, a recent Swedish study showed that starting women on mammography at age 40 rather than 50 was associated with a 26 percent reduction in risk of death from breast cancer. Mammography is not perfect and has a lower sensitivity in the young, dense breast than in those of older women. However, it does find some cancers that may otherwise elude detection for years. The key point is that every woman should have a balanced discussion with her physician about what is best for her. These conversations should always be happening, even more so now.
Dr. Wallace: At this time, women should have a discussion with their primary care doctor about the pros and cons of getting screened. Along with the American Cancer Society, Moores Cancer Center still supports screening in this age group after a balanced discussion regarding the risks and benefits.
Dr. Wallace: There have been no changes in recommendations for women who have family history of breast cancer, carry the BRCA breast cancer gene, or have other extreme risk factors. See below for specific BRCA gene questions.
Dr. Wallace: Some studies have not found the benefits of breast self exam to be worth the potential increase in anxiety and unnecessary biopsies that may result from suspicious lumps. While some studies have shown a lack of evidence that self-exams reduce the rate of deaths from breast cancer, women who are comfortable examining their breasts should continue to do so and women should always know if something is new or has changed in their breasts.
Dr. Wallace: We believe that if a woman is healthy and active at an advanced age, she should continue to discuss the benefits of mammography with her doctor. As women live longer, the data may not be reflecting the true benefit of screening in this age group. Certainly, if an older woman has serious or life threatening medical problems where screening mammography is a burden or will not change her likelihood of life expectancy, than she may consider forgoing mammography.
Dr. Wallace: Increasingly, data is showing that higher body fat content is linked to increased breast cancer risk. We suggest that a woman keep her weight right around what it was when she graduated high school. The key is to not progressively gain weight.
Also, a recent study showed a doubling of invasive lobular breast cancer with increased alcohol consumption. As little as one glass per day means a higher risk for breast cancer. But again, each woman should discuss this with her physician to determine what’s best for her.
BRCA gene testing and preventive mastectomies
Dr. Helsten: Above all, any woman (or man, in the case of breast cancer) who is concerned about the possibility of carrying a genetic mutation for breast/ovarian cancer should consult with her physician. Physicians may provide counseling or refer patients to trained genetic counselors for evaluation.
Things that might make a woman think about her risks include the following:
- A family history of breast and other cancers: Think about both sides of the family (mother’s and father’s sides) and think about family members up to and including two generations away (up to and including grandparents or grandchildren). Any family that has two or more members with breast cancer or breast and ovarian cancer on the same side of the family, particularly if anyone has had breast cancer when younger than 50 years old, or has had two separate breast cancers. Any men with breast cancer. Breast cancer and one of the following cancers on the same side of the family: thyroid cancer, sarcoma, adrenal cancer, uterine (endometrial cancer), stomach (gastric) cancer, and leukemia/lymphoma.
- Being from a population at risk: People of Ashkenazi Jewish descent have a higher risk of carrying a BRCA1/2 mutation. Women who are Ashkenazi Jewish may not need to have as strong a family history of breast and other cancers to be considered for testing. However, women of Ashkenazi Jewish descent with no personal or family history of breast cancer are probably not at risk.
Dr. Madlensky: The one that we test for most commonly is the
BRCA2 genes. It is a fairly straightforward test, but there are some nuances involved. For example, women who already know that they have a mutation present in their family, they get a much simpler test compared with someone who is the first person in their family getting tested—those patients get a more complete test. For people who have Jewish ancestry, there is a separate test that we start with. There are different technologies used to do the
BRCA test; even though it is labeled as just getting
BRCA testing, there actually are nuances involved in ordering the correct test. There are other tests also available. For families that clearly show a hereditary breast cancer predisposition, there are now newer next-generation types of tests that look at other genes besides
BRCA2. We are just starting to offer those now for very select families.
Dr. Madlensky: Ideally, we want the first person in a family who gets tested to be someone who has had breast or ovarian cancer because we want to be able to figure out if their cancer is related to a
BRCA mutation. So, the first person getting tested will get full sequencing of both genes. The analogy I like to use is, it is kind of like doing a spell-check in two books to try to find a small spelling mistake in there.
There is another level of
BRCA testing, called BART, which stands for
BRCA rearrangement testing. That is the equivalent of looking for a chapter that is missing from one of the books, and the sequencing technology can’t pick up that type of change. That test was not routinely done for women, and now it is increasingly routinely done as part of
BRCA testing. There are different layers of
BRCA testing, and we want to make sure the appropriate women get the appropriate layer of testing that is right for them.
Dr. Helsten: If a woman is found to carry a genetic mutation that increases her risks of breast and ovarian cancer, there are several things to think about:
- What about screening for other family members? A trained genetic counselor or physician can counsel as to who should consider testing and how. When in doubt, other family members can discuss with their own physicians.
- Does she want to do anything to reduce her risks of developing breast and ovarian cancer? If so, she will need to discuss carefully with her physician to help make the right decision for her as every case is unique. Options include increased surveillance (which doesn’t lower the risk of cancer, but increases chances of detection); taking risk-reducing medications (e.g., tamoxifen); and surgical removal of breasts and/or ovaries. For example, removal of both breasts by mastectomy reduces the risk of breast cancer by approximately 90-95 percent. These decisions can be very personal and very difficult, but the good news is that they almost never need to be made in a rush. It is worth taking the time to get informed in order to make a decision that is fits the individual.
Dr. Helsten: No, cancer is not inevitable, but the risks are usually quite high. Depending on the specific mutations discovered, the lifetime risks of breast cancer for BRCA1/2 carriers are estimated to be 56-84 percent. For ovarian cancer, the lifetime risks are a bit lower. They are estimated to be 36-46 percent for BRCA1 and 10-27 percent for BRCA2 mutation carriers.
Dr. Wallace: Any woman considering a prophylactic mastectomy must have a long discussion with a skilled breast surgeon who is a major part of a larger breast cancer team. This is not a surgery to undertake lightly. Make certain your surgeon does a lot of breast-cancer related surgeries, not just occasionally.
Prophylactic mastectomy can prevent breast cancer. While that is good news, there is still no corresponding change in mortality. A woman should be aware of these differences and discuss seriously their options with a skilled breast cancer surgeon to avoid unnecessary surgery.
“Stage 0” breast cancer
Dr. Blair: Basically these tumors start in the duct, which is a tube that drains milk when you breast feed. Tumors that are stage 0 are confined inside the duct and cannot spread outside to other parts of the body. However, if the tumor is left alone they can eventually break through the duct and become invasive. Early treatment prevents spread of the tumor.
Dr. Blair: Most women are good candidates for breast conservation, which is removal of that area of the breast or lumpectomy plus radiation. We also recommend the drug Tamoxifen for women with estrogen sensitive tumors. This drug treats the tumor itself and helps prevent future tumors. However, some women do not want to take Tamoxifen because of its side effects. For the average woman with stage 0 their lifetime risk of developing a second cancer in either breast is 20 percent. Some women with a strong family history of breast cancer, i.e. multiple relatives with breast cancer, may have a higher risk of a second cancer, particularly if they are diagnosed at a young age. These women may consider more aggressive surgical treatment to prevent future cancers. Typically, most women do not have radical surgery, but those that do have much better cosmetic outcomes than in the past.
Dr. Blair: Unfortunately, nothing is 100 percent in medicine but there is a high likelihood of being cured. The chance of being cured depends on the size of the tumor and its appearance under the microscope or grade. In general the chance of being cured is greater than 90 percent.
Inflammatory breast cancer (IBC)
Dr. Blair: Inflammatory breast cancer (IBC) is a rare type of breast cancer (about 2 percent of all breast cancers) in which patients have rapidly growing tumors that show signs in the skin. This type of cancer has a worse prognosis and is often fatal. The signs are redness and swelling of the skin of the breast, sometimes nipple retraction and often pain and a lump inside the breast.
It is more common in younger women than other types of breast cancer, and can be difficult to distinguish from more common breast infections, which are common in younger women.
Women who have these symptoms should see their doctor and get breast imaging. Often they will be treated with antibiotics for a week or so. If the symptoms resolve, then it’s safe to conclude the redness was due to infection. If the redness persists, then a biopsy should be considered.
Dr. Blair: IBC can be difficult to diagnose on a mammogram. An ultrasound can be useful in this circumstance to look for an abscess (a walled off collection of pus) to explain the symptoms of redness, mass and pain. If an abscess is not clearly seen, then a needle biopsy of a mass seen on the ultrasound should be considered.
Dr. Blair: Once the diagnosis is made, other imaging studies, such as a breast MRI and possibly a CT scan, may be needed to assess the spread of the disease, to see if it is confined to the breast. Treatment usually starts with chemotherapy to shrink the tumor and to decrease the redness and swelling. If the patient responds well, then usually a mastectomy or removal of the whole breast is needed to get rid of all the disease, including the lymph nodes under the arm. Once the patient heals from surgery, radiation is given to treat any microscopic cells in the surrounding skin of the chest.
Dr. Blair: Unfortunately, IBC is a poorly understood entity. At this point, we do not have any specific markers or genes that tell us whether a particular case of cancer is IBC and requires a particular type of chemotherapy. We do know that historically patients present with a rapidly developing, dramatic form of breast cancer and that over time, it tends to recur quickly despite aggressive treatment.
Dr. Blair: IBC incidence has slightly increased from two cases per 100,000 (woman-years) to 2.5 cases per 100,000 (woman-years). However, it is known to be more common in African-American women compared to white or other ethnic groups. I do want to stress that this is an extremely rare type of breast cancer that has gotten a lot of publicity lately in the press. There is a lot of public awareness right now about IBC, which is good, but most women who develop redness of the breast do not have inflammatory breast cancer.
Dr. Blair: We do know that with aggressive combination treatment of chemotherapy, surgery and radiation, there has been a modest increase in survival in patients with IBC. In the future, once we map the genes associated with IBC, we can come up with specific targets to treat it. At this point, there are more questions than answers.
UCTV program on advances in breast cancer surgery, featuring Dr. Blair.
Future of breast cancer treatment
Dr. Wallace: The next decade will be all about biologics. Chemotherapy kills cells, good and bad. What we need is targeted therapy. For example, the drug herceptin dramatically changed mortality rates for women with HER2-positive breast cancer. We need more such targeted treatments. And the PARP inhibitor shows great promise for BRCA-associated cancers and potentially with triple negative breast cancers.
On the surgical side, we are making advances in nipple-sparing mastectomies for some women and our expectations for reconstruction look better and better. But we must remember that surgical therapy varies widely, depending upon the situation. There is no cookie-cutter answer.