Sunday, December 18, 2011

Health Aware: Genetic counseling helps family fight cancer risk

Dr. Samir Undevia, Edward Hematology Oncology Group, and Elyse Weber, a genetic counselor at Edward Hospital, will present “Are your genes putting you at risk for cancer?” from 7 to 8:30 p.m. Wednesday, Nov. 9, in the education center auditorium at Edward Hospital, 801 S. Washington St., Naperville. They will discuss how heredity and genetics play a role in a person’s risk for developing cancer and explain genetic testing, how it is performed and who is appropriate for the test. The program is free. Call 630-527-6363 to register.

There aren’t too many choices we make that we later describe as “life-changing,” but that’s how 39-year-old Sheri Reed of Plainfield portrays her decision to undergo genetic counseling.

Reed’s family health history includes breast cancer that took the lives of her grandmother and three of her grandmother’s four sisters at an early age. More recently, Reed’s mother was diagnosed with and treated for ovarian cancer — after surviving breast cancer at the age of 33.

Reed was determined to do what she could to curtail what seemed to be a “family curse.” She already had a double mastectomy at age 35 after her last child was born, but wondered what else she should do to reduce her risk of ovarian cancer, which is related to hereditary breast cancer.

Her OB-GYN had suggested an oophorectomy (ovary removal) as a way to reduce cancer risk. But Reed wanted to learn more about her risk and whether it would be worth it for her to undergo this additional surgery.

“Having the mastectomy was a no-brainer,” Reed says. “I had finished nursing my last child. But removing the ovaries affects your system a lot more than removing breasts does.”

In May 2010, Reed made an appointment to see Edward Hospital genetic counselor Elyse Weber.

“Some people come in feeling they’re doomed with a minor history of cancer,” Weber says. “In Sheri’s case, her extensive family history was a major cause for concern.”

Cancer occurs when our genes aren’t working properly. Either they aren’t regulating the growth of cells as they’re supposed to, or they’re not adequately destroying damaged cells. Sometimes these genetic abnormalities, called mutations, are acquired during a person’s lifetime, stimulated by environmental factors, such as smoking. But about 5 percent to 10 percent of cancers are related to inherited gene mutations.

Genetic testing for breast cancer usually starts with a simple blood draw. The lab is typically asked to focus on the most commonly relevant abnormalities — disorders in the BRCA1 or BRCA2 genes. But other gene mutations are sometimes the culprit.

Reed reported that her mother had tested negative for the basic BRCA1 and BRCA2 mutations. Given Reed’s strong family pattern, Weber suggested her mother have a more recently developed genetic test called BART, which identifies another type of mutation in the BRCA1 and BRCA2 genes. Reed’s mother agreed, but she was in the middle of chemotherapy in Florida.

“Elyse was amazing,” Sheri recalls. “She arranged everything for my mom so she wouldn’t have to worry about it.”

And the test did solve the mystery. Reed’s mother tested positive for the BART mutation.

“This was a rare situation where we hoped to get a positive result,” Sheri says. “We finally understood the cause of all these cancers in the family.”

The next step: Sheri and her 36-year-old sister Sue would get tested. Each had a 50-50 chance of having inherited the same mutation. Sheri’s BART results came back negative, which means she will keep her ovaries.

“It’s wonderful to have more detailed information about my risk and to know my kids don’t need to be concerned (about this mutation),” she says.

Unfortunately, Sue did test positive and will have an oophorectomy in spring 2012. She’s already had a double mastectomy. Sue’s surgeries will reduce her risk of breast cancer by 95 percent. Her two daughters can be tested when they’re 18.

Samir Undevia, a hematologist and medical oncologist with Edward Cancer Center, leads Edward’s cancer risk assessment program.

“Surgery isn’t the only preventive measure people can take if they’re at high risk of breast cancer,” Dr. Undevia says. “There are medications that reduce risk, such as tamoxifen. And we recommend accelerated screening schedules — if you would have started mammograms at 40, you now might start as early as 25. Our goal is to give the patient all the information they need to make an informed decision.”

To learn more, visit www.edward.org/cancer or call 630-646-6093.

Health Aware is a weekly column courtesy of Edward Hospital

Source: http://napervillesun.suntimes.com