GENES ARE NATURE’S INSTRUCTIONS FOR EVERY LIVING THING. We inherit genes in pairs: one set from our mother and one from our father. Genes determine the color of our hair and eyes, if we have food allergies or are prone to a fast metabolism. Sometimes, they determine if we will develop cancer in our lifetime.

Researchers have found that certain types of cancers — such as breast, ovarian, uterine, prostate, melanoma and colon — seem to run in families. A small number of cancers are inherited genetically, where an altered gene — that is, a gene containing a mistake – is passed down from one generation to the next. Although such genes cause only 5 to 10% of cancers, those who have them are at a significantly higher risk of developing the disease during their lifetime.

This altered gene is where genetic testing comes in. For certain cancers, genetic tests are currently available to identify those who carry these specific altered genes.

The UCLA Family Cancer Registry gathers information from people and families who may share these altered genes, and thus the possible genetic risks of certain types of cancers. This information is then made available to researchers, who use the information to study how these cancers develop, how they can be treated, prevented — and possibly cured.

Having this information in a registry saves individual researchers years of data gathering; by collecting all of this information into a centralized place the registry can help quickly advance cancer research and the search for its treatments and cures.

“Our philosophy is to provide a community service (to test those who are at high risk of carrying the cancer gene), to provide access to genetic counseling free of charge and then careful observation (after obtaining test results),” says Patricia Ganz M.D. ’73, director of the Division of Cancer Prevention and Control Research at UCLA’s Jonsson Cancer Center and founding director of the UCLA Family Cancer Registry. “If someone wants to be tested (for the gene), it does not go in their medical records.” This helps keep complications from insurance companies at bay, and keeps them from raising rates or dropping clients who carry the altered gene, a risk for developing cancer.

Registry participants are asked for information regarding their family history, personal medical history, ethnicity, health status and lifestyle habits. Participants are also asked to provide a blood sample (and if applicable, a tissue sample) that might be used in future studies. Individuals who participate in this program receive genetic counseling, access to genetic testing and information on the latest cancer prevention trials. In turn, the registry makes it possible for researchers to find people interested in taking part in cancer research studies.

Not just anyone can participate in the registry, however.

“The person has to be high enough risk,” explains Ganz. “Either they have or have had breast cancer, for instance, or somebody else in their family has had it.”

Often, Ganz says, as a result of a woman being tested for the cancer gene, someone else from his or her family will come in to be tested. She relates the case of one woman who had breast cancer and was tested for the breast cancer gene, and found she was positive as a carrier. As a result, her daughter came in to be tested, found out she was positive, and as preventative measure, had her breasts and ovaries removed.

But many times the news is better than participants expect it to be prior to testing.

“Often times they’ll come in and they think their risk is 100%, and we’ll say no, your risk is actually only a 25% likelihood … which doesn’t mean that it is nothing, but it doesn’t mean that it is as high as they had thought, and that can help them psychologically,” Ganz explains. “On the other hand, sometimes if the risk is higher than they thought, we help get them into better lifestyle habits, having mammograms regularly, being careful with their diet, and alcohol is thought to be a factor. So there is a lot we can do to try to prevent it.” She stresses that testing positive for the gene does not mean a person will get cancer. And there are many things that people can do that might lower their risk factors of developing cancer including diet and exercise.

Registry participants are contacted annually to update their information, such as changes in family or personal medical history. Ganz stresses that numbers — not names — identify participants, information is kept strictly private, and registry records are never included with medical records. To further protect the privacy of participants, the registry has obtained a certificate of confidentiality from the U.S. Department of Health and Human Services. With this certificate, the registry cannot be forced to disclose information (such as by court subpoena) that may identify participants in any federal, state or local civil criminal, administrative, legislative or other proceeding.

Finding Meaning in Loss
Cathy Dorsey’s mother had breast cancer twice — once at 42, and then again at 60. After her mother’s death from the disease, Dorsey decided to be tested at the UCLA Family Cancer Registry.

Her test came back positive.

After testing positive for the breast cancer gene, Cathy Dorsey chose to participate in the UCLA Family Registry as well as clinical trials on breast cancer at UCLA.

“I knew the results were going to come back positive,” Dorsey says. “My grandmother, my grandmother’s sister, my mother, and my aunt all had breast cancer. I grew up knowing that my mom and aunt were breast cancer survivors. But, it wasn’t until my mom died a few years ago from her second battle with breast cancer that I truly realized how vulnerable we are to this disease.”

Dorsey tested positive for BRCA 1, a gene mutation associated with breast cancer. Of her four sisters, two chose to be tested for the gene. One tested positive, and the other tested negative. Her two older sisters chose not to be tested.

“I was 38 when I tested positive for the gene,” she says. “The UCLA Family Registry explained what the results would mean to me and my family.” She met with Ganz and genetic counselor Joyce Seldon, and began gathering as much information on the disease and genetic testing as she could, educating herself on the topics as thoroughly as possible.

“I know there is a 59 to 89% chance that I will develop breast cancer in my life,” Dorsey says, “and even though I have considered having my breasts removed as a preventative measure, I realize I am not ready to make that decision yet.”

A positive test does not mean that Dorsey will get breast cancer, but it does mean that she is at a marked increased risk of developing the disease. The mother of three sons, they might be carriers of the gene as well, although, since they are males, their risks of contracting breast cancer are much lower than it would be had they been females.

After the initial diagnosis, Dorsey admits that she was at first very devastated by the news. “But now I know I have to take my health more seriously,” she says. “And knowing this information has also opened doors to participating in other research studies.”

She is currently participating in a national study of young women at high risk for breast cancer being studied by researchers at UCLA’s Jonsson Cancer Center, who are trying to find out if the drug tamoxifen can decrease breast cancer risk by reducing breast tissue density. Along with the study medication, she received serial MRI scans of the breast for more intensive examination of the breast tissue — all free of charge as part of the research study.

She is checking her eligibility for an ovarian cancer study because she knows that since she is a carrier of the BRCA1 gene, her chances of developing ovarian cancer are about 44%. Many women with her family history opt to have their ovaries and uteruses removed.

Participating in the registry and the clinical studies has helped her, and she hopes it will provide researchers with information they can use to help others.

“I feel that I’m being proactive,” she explains. “I’m closely monitored. I’m working with researchers at one of the best research facilities in the world. I feel like I’m doing something for myself … and hopefully for someone else.”

Each year, more than 210,000 American women learn they have breast cancer. It is estimated that in 2004, some 25,580 women were diagnosed with the ovarian cancer, with some 16,090 dying from the disease. Statistics like these are what keep Ganz, a 2004 recipient of the UCLA Award for Professional Achievement, and her colleague Seldon, a genetic counselor and deputy director for the registry, motivated with their research and with the cancer registry.

After she helped start the Revlon/UCLA Breast Center High-Risk Program a decade ago, Ganz says she began seeing women with family histories of cancer, and among those were women who were very high risk.

“When the genes were cloned and the testing became commercially available in 1997, we were kind of at a pivotal point at the cancer center about whether we were going to have everybody go to their doctor and get clinically tested (for the breast cancer gene) — it’s simple to blood test — but the interpretation of the test results can sometimes be difficult,” Ganz explains.

“As a cancer prevention researcher, I thought it’d be great if we could do a good service for people by providing genetic counseling and testing in a confidential environment, but also to then follow these people so that we could do other research studies using their data, and to recruit them for new studies.”

The registry now has more than 500 individuals enrolled, and some 400 families participating.

Seldon and another genetic counselor work closely with Ganz, counseling the individuals who participate in the registry on what it means to test positive for the cancer gene. Until last year, Seldon was the only genetic counselor for the project, meeting with every participant. Fortunately, through additional philanthropic support, the registry was able to hire another genetic counselor to expand their services to a larger number of people in the community. It has been a rewarding experience for Seldon to build the program and work with so many wonderful people.

“It’s really nice to work with families — you get to know them,” she says. “And the people involved with the registry are quite a motivated population. They are involved and interested in the registry and many of the studies.” She often recruits individuals for new cancer studies, and helps make them aware of new cancer research studies seeking participants through a newsletter.

“One study we’re working on now is, if people get tested for the breast cancer gene, and they find out the test is negative or positive, what that does to their immune system?” Seldon asks. “This new study is a first step toward understanding which genetically tested individuals are at high risk for cancer-related distress and compromised immune status,” she explains.

Dorsey says that participating in the registry, and the counseling Seldon was able to provide her when she found she was a carrier of the breast cancer gene, was phenomenal.

“I am so thankful the family registry was there for me,” Dorsey says. “The counseling that Joyce was able to provide me, as well as all the research opportunities they provided, were just so great. You need to know what to do with that info when you find out you’re positive. It’s important to know what to do with that information, and what to do next.”

Ganz agrees that it’s important for those who test positive to know that means, what steps to take next and what options they have.

“Our philosophy is to empower people,” she says. “It’s one thing to find out this information and have to basically educate yourself, or to feel that there’s nothing you can do about it. I feel my passion for prevention really permeates everything we do in that it’s information that empowers people and gives them hope that they’re going to be able to prevent this disease or at the minimum detect it early.”

Ganz mentions that she works with a number of mother-daughter pairs who are surviving breast cancer, and that new strides in understanding the disease — and finding a cure — are being made every day.

“Already, just in one generation, progress is being made,” she says. “And that is encouraging.”

UCLAlumni Magazine, February 2004