‘A blessing to know’

Genetic testing helps identify cancer risks for an entire family

Jill Asprey knows the importance of timing and tough decisions. She credits both with helping doctors find an ovarian tumor early and getting her on the path to further reducing her risk of cancer.

In 2011, during a gynecology visit, Jill was talking with her doctor about her family’s cancer history. Jill’s mother died of breast cancer at age 64, and her grandmother had had ovarian and colon cancer.

Jill’s gynecologist at University of Iowa Hospitals & Clinics suggested that Jill consider genetic testing to determine whether she was at risk for those cancers, too.

“At the time we didn’t know if insurance companies could drop you if you were found to be at risk for something in the future, and we had too many unanswered questions, so we just kind of decided against it,” Jill says.

Three years later, the subject came up again. By then, genetic testing had become more widely recognized as a valuable tool in health management, and laws were in place to protect patients. In addition, her brother had been diagnosed with aggressive stage 4 prostate cancer under the age of 50.

Jill decided to have the testing done.

Genetic testing at Holden Comprehensive Cancer Center targets the hereditary cancer genes, specific to certain cancers, that may exist in a family.

Jill tested positive for a BRCA2 gene mutation. The BRCA2 gene produces tumor suppressor proteins that help prevent cells from growing and dividing too rapidly or in an uncontrolled way. A mutation of this gene means that cells are more likely to form a tumor.

Jill’s genetic testing results indicated that her specific mutation was associated with a 45 to 84 percent lifetime risk for breast cancer and an 11 to 18 percent lifetime risk of ovarian cancer. Other cancers associated with this mutation are male breast cancer, prostate cancer, melanoma, and pancreatic cancer.

“The BRCA2 diagnosis starts a whole series of evaluations with lab testing, imaging, and consultations about options to address the risk associated with your mutation,” Jill says.

Jill and her husband, Dave, were concerned about the results—and what implications they could have for them and their immediate and extended family.

“Even as Jill started going down this path, we had to think about it—those implications could be fairly far-reaching at some level,” Dave says. “Would we share the results with our family members? Would we keep it to ourselves? Even if they say they don’t want to know, if you go through those procedures they’re going to know something.”

Children of BRCA2 mutation carriers and their siblings each have a 50/50 chance of testing positive. Because genetic testing had identified the actual chromosome mutation, testing could be more streamlined for other family members as the lab already knew where to look for the mutation.

As a result of the genetic testing, Jill was connected to gynecologic oncologist Jesus Gonzales Bosquet, MD, PhD, at the Women’s Health Center at UI Hospitals & Clinics. Jill worked with Gonzalez to determine her best options to reduce her risks of ovarian cancer. She opted to have her ovaries removed.

While undergoing a minimally invasive robotic hysterectomy and oophorectomy in February 2015, doctors discovered a tumor which was determined to be a rare type of ovarian cancer. The cancer was determined to be stage 1A. Only about 25 percent of ovarian cancers are caught in the early stages, Gonzalez Bosquet says, with the remaining 75 percent detected at an advanced stage.

Although Jill’s ovarian tumor was unrelated to the BRCA2 gene mutation, Gonzalez Bosquet says the genetic testing served a vital role in Jill’s early diagnosis. It could help others as well.

“There’s no good screening for ovarian cancer, but for patients like Jill, who have a family history, we can do a test and determine whether they have a high susceptibility for these cancers,” he says.

Through her genetic counselor, Jill was connected with a breast oncologist, breast oncology surgeon, and a plastic and reconstructive surgeon for consultations. She started on the drug tamoxifen immediately to reduce her risk of breast cancer while considering surgical options. A decision was made to undergo a risk-reducing, skin-sparing double mastectomy in November 2015, and the reconstruction was completed in March 2016.

"Because the risk of developing breast cancer is so high in women with a BRCA mutation, many decide to undergo preventative mastectomies,” says Ingrid Lizarraga, MBBS, Jill’s breast oncology surgeon at Holden Comprehensive Cancer Center. “This gives them the best chance of avoiding a breast cancer diagnosis and the treatments that go with it, such as lymph node surgery, chemotherapy, and radiation. Also, when we do mastectomies for prevention instead of for cancer treatment, we have more options for giving a woman the best cosmetic outcome, and she is able to choose the time that works best for her to have surgery."

A benefit of making the tough decisions of testing and surgeries, Jill says, is that her extended family has become more aware of the risks and can make informed decisions about enhanced surveillance, chemo prevention, and prophylactic (risk-reducing) surgeries. Since her own diagnosis, Jill says nine family members have been tested, and four have been found to be at high risk.

“Having a BRCA mutation is very difficult news to learn, but we have decided to consider this knowledge as a blessing rather than a curse, and our hope and prayer is that others in our family also be able to eliminate or have early detection of hereditary cancers as well,” Jill says.