Kathy Helzlsoure MD, MHS
In the Spotlight

Dr. Helzlsouer is a Professor of Epidemiology at the Johns Hopkins Bloomberg School of Public Health.

What have been the major accomplishments in breast cancer research over the past five years?

The ability to clarify risk using genetic testing is a very important recent accomplishment. Now, we are asking the question: Once we identify women at high risk, what can we do about it? It’s one thing to identify women at high risk for breast cancer, but it is quite another to give them something to proactively reduce their risk. Therefore, the discovery that tamoxifen and possibly other similar agents can reduce breast cancer risk is another important achievement. Finally, we also have better information about how much prophylactic mastectomy (surgical removal of the breasts to prevent cancer) reduces breast cancer risk in people who carry mutations in the breast cancer susceptibility genes BRCA1 and BRCA2.

How have these accomplishments impacted you as a physician and your patients?

In the past, we were able to tell patients about the factors that increased their risk for breast cancer and offer regular screening in the hopes of early detection. For some high-risk individuals, we would discuss prophylactic surgery. Now we have chemoprevention options that can lower a woman’s risk before cancer is even detected. The methods we have are not perfect because there may be side effects, as is the case with tamoxifen. However, it is wonderful to have something to offer that may lower the risk, short of surgery, so that we don’t have to rely only on detecting the cancer early.

What do you tell a patient who is concerned about breast cancer because of a family history?

We look at the overall picture of the patient rather than focus entirely on family history because factors aside from genetics can contribute to breast cancer risk. In this way, we can determine how much breast cancer risk may be due to genetics and how much may be influenced by other factors, such as environment and culture. If we see early onset breast cancer in a family (e.g., diagnosed in relatives before the age of 50), breast cancer in multiple generations of a family, and other cancers in the family such as ovarian cancer, then we have a high suspicion that an inherited genetic change may explain the cancer in the family. Sometimes, genetic testing can clarify the risk in cases where breast cancer appears to be hereditary. The results of genetic testing can also help patients make decisions about preventive options such as taking tamoxifen or pursuing prophylactic surgery.

What do you think should be the priorities in breast cancer research in the upcoming years?

There are ongoing trials to assess other potential preventive drugs that have fewer side effects. This is a very high priority. Early detection methods, such as digital mammography and magnetic resonance imaging (MRI) scans of the breasts and ductal lavage are also important priorities. Ductal lavage extracts fluids from the breast ducts to examine cells for cancer, much like the Pap smear is used to detect cervical cancer in cells obtained from the lining of the cervix. How helpful these methods may be for early detection has yet to be determined.

More research on the genes that may predispose to breast cancer risk is also needed. In many of the families who we suspect have inherited forms of breast cancer, we cannot attribute their cancer to detectable changes in the BRCA1 or BRCA2 genes. We need to know how much of this is due to limitations in the test for mutations in these genes and how much is due to the presence of other, yet undiscovered, genes. Improving our ability to characterize who is truly at risk and who can benefit from preventive interventions remains an important priority.