Gene mutation signals higher risk of cancer

Published Feb. 13, 2011 @ 5 p.m.

Sandra Ettema is one smart woman.

She became a doctor through the medical scholars program at the University of Illinois at Urbana-Champaign. Before that, she earned bachelor's, master's and doctoral degrees from the U of I in speech and hearing science.

But she waited six months before she underwent a test that would have verified she carried a gene mutation making her much more likely to develop breast and ovarian cancer. At the time, she didn't understand how the test results might affect her health.

The mutated gene, known as "BRCA2," was passed on by her father. She eventually discovered the mutation is carried by all four of her siblings and potentially dozens of other relatives.

Ettema, 42, a Mechanicsburg resident and surgeon at Springfield's Southern Illinois University School of Medicine, got the gene test only after she detected a lump in her left breast in April 2010. That was six months after she learned a second cousin had tested positive for a BRCA2 mutation.

Armed with the test results, Ettema decided to have her unaffected right breast and both ovaries surgically removed, along with the left breast, at St. John's Hospital in May.

"I felt stupid because I didn't immediately get tested," said Ettema. "That's why the practice of medicine is not a textbook. You have to keep reading and keep learning. This is something that is becoming more public."

More info needed

Other doctors, especially those in primary care, need to know more about gene testing for cancer, she said, and patients need to realize that male relatives are just as likely as females to pass on BRCA mutations.

That is why she said she is going public with her story and beginning the journey of educating her fellow physicians. She will be one of three guest speakers at a free public event at 5:30 p.m. Thursday at SIU's Simmons Cancer Institute. The next day, she will talk to doctors and other health professionals during a symposium at the cancer institute.

Testing for BRCA genes is only about 10 years old, and many doctors and patients still don't know who should be tested and the implications of the results, according to Christine Carver, a nurse practitioner at the cancer institute's breast center.

Fewer than 1 percent of all people carry the BRCA1 or BRCA2 gene mutations, and only 5-10 percent of women with breast cancer carry those genes.

But 60 percent of women with one of the BRCA mutations will get breast cancer - a risk that is five times higher than women without the mutations. BRCA-positive women are 10 to 28 times more likely to contract ovarian cancer.

Women with the mutations also are more likely to come down with other cancers. Men with the mutations have an increased risk of breast cancer, pancreatic cancer and prostate cancer.

Ettema considers herself cured. Her breast cancer had spread to lymph nodes and some blood vessels by the time it was diagnosed, but it was in a treatable stage, she said.

Her surgery was followed by months of chemotherapy, radiation treatment and recovery.

She started working part-time in July, her treatment ended in December, and she returned to full-time practice this month - although her long, blond hair has been replaced by light-brown curls.

Family cancer history

Ettema grew up in Streator, one of five children. Her father's mother had breast cancer and eventually died of bone cancer when Ettema was in eighth grade.

Her paternal grandmother's sisters died of ovarian and abdominal cancers. But Ettema didn't realize she was at higher risk of breast or ovarian cancer until she was diagnosed in April, even though she had known that a distant relative was positive for the BRCA2 gene mutation.

Ettema's second cousin in Iowa, a niece of her paternal grandmother, had breast-cancer surgery and discovered she was BRCA2-positive. She told other family members in October 2009 that they might carry the BRCA2 mutation.

Ettema discussed that news with her primary care doctor, but neither of them felt any urgency to test her. Her mammogram and clinical breast exam had been normal just three months earlier. Ettema planned to get a BRCA test at her next breast exam in June 2010.

But on April 23, Ettema gave a lecture in Champaign and went to a restaurant with her sister's family. When Ettema's 5-year-old niece accidentally poked her in the left breast, Ettema felt a shooting pain.

She immediately started worrying, and within a few days, an ultrasound and biopsy in Springfield confirmed that she had breast cancer. She underwent a BRCA test, got the results two weeks later and immediately notified her siblings. She urged them to get their own BRCA status checked right away.

As a result of Ettema's diagnosis, 14 people in her extended family have been tested for BRCA mutations, and 12 came up positive, including all four of her siblings.

Caught early

One of Ettema's younger sisters, who lives in Canfield, Ohio, ended up having a breast cancer that was caught early because of the testing. She underwent a double mastectomy and removal of her ovaries a month after Ettema.

No cancer was found when her older sister, who lives in Champaign, had an ultrasound and MRI scan done, but that sister opted to also have prophylactic removal of her breasts and ovaries.

By the time Ettema's younger brother tested positive, his wife was pregnant with their third child.

The couple, who live in Dubuque, Iowa, had wanted to have a fourth child but decided that the wife would get a tubal ligation after she delivered her third baby. The couple didn't want to risk the 50-percent chance of passing the BRCA2 mutation to a fourth child, Ettema said.

Ettema's siblings will have to decide when to notify their children that they, too, could be at risk of BRCA mutations. The BRCA test, which uses blood or saliva, can be administered only to people 18 and older.

Other, more-distant relatives are being tracked down and notified.

Ettema's parents - especially her father - feel guilty about passing on the gene mutation to their children, even though Ettema makes light of the situation.

"I told my dad that I'm never taking him to Vegas," she said. "I said, 'You lose every time.'"

She is having her father monitored more closely for cancer, and she recently learned that a distant wing of her father's family is carrying the BRCA2 mutation. She is in contact with one of those relatives and has almost filled a large sketchpad with an elaborate family tree to keep track of the connections.

Her newfound knowledge gives her possible explanations for the cancers that killed several of her relatives in the 1960s and 1970s.

Most of her relatives have decided to get tested, but that's not the case with some people who learn a relative is positive for a BRCA mutation, according to Carver, the SIU nurse practitioner.

"There's always that individual out there who says, 'I don't want to know,'" Carver said.

Be aware

Even though her older sister found no cancer, Ettema is glad she underwent the prophylactic procedures.

"I enjoy life," Ettema said. "When I'm 70 and my sister is 73, she's going to be here, sitting next to me."

Ettema and her husband, Steven Everitt, have always wanted to adopt children, so they don't view the removal of her ovaries as a huge loss, she said.

Getting used to early menopause hasn't been easy, however. With medicine, Ettema's hot flashes have dropped from three or four to one a day, and she is taking supplements to prevent osteoporosis.

Ettema doesn't miss the nausea and blistering skin from her treatment, but she said she enjoyed the many friendships she made with her caregivers and fellow patients.

The experience has given her more empathy for her patients and motivation to inspire other doctors and patients to look into the potential benefits of gene testing.

"Just be aware," she said. "You need to get a full family history to see what's going on, because we're just now figuring this out."

Dean Olsen can be reached at 788-1543.

More information

Want to go?

What: "Cancer: Is it in Your Genes?" Free, open to public.

When: 5:30 p.m. Thursday

Where: Room 1012 of the Simmons Cancer Institute, 315 W. Carpenter St., Springfield.

Pre-registration: or call 545-7493.


*What are BRCA1 and BRCA2?

The names of human genes that help prevent uncontrolled cell growth. Mutations in these genes have been linked to the development of hereditary breast and ovarian cancers, as well as other cancers.

*What is the increased risk?

Mutations in either gene increase a woman's risk of breast or ovarian cancer. BRCA1 mutations also can increase a woman's risk of developing cervical, uterine, pancreatic and colon cancer, pancreatic cancer, stomach cancer, gallbladder and bile-duct cancer and melanoma. In men, BRCA1 mutations increase the risk of breast cancer and possibly pancreatic cancer, testicular cancer and early-onset prostate cancer.

*Is BRCA testing covered by health insurance?

The test is about 90 percent accurate, costs $3,150 and is covered by Medicare, Medicaid and most private insurance plans, but the patient must have a certain family history or medical condition to qualify. Myriad Genetic Laboratories Inc., which performs the test, will work out a payment plan if the patient's out-of-pocket cost exceeds $375.

* Can patients who test positive for BRCA1 or BRCA2 mutations be targets for discrimination?

* In 2008, a federal law was enacted to protect U.S. citizens against discrimination based on their genetic information in relation to health insurance and employment. The law doesn't cover life insurance, disability insurance and long-term care insurance.

Sources: National Institutes of Health and SIU School of Medicine

Copyright 2011 The State Journal-Register. Some rights reserved


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