By CINDY LADAGE
Illinois Correspondent

SPRINGFIELD, Ill. — Dr. Sandra Ettema has farming roots, and wants other farm families to know how important medical history can be – especially in the case of cancer and genetic diseases.

This young doctor has been sharing her personal story so others will do the same. “I was diagnosed with breast cancer,” said Ettema, an ENT at SIU Medical School who specializes in laryngology, which focuses on treating disorders of the larynx and voice.

She found that she carries the BRAC2 gene, which makes her prone to breast cancer.  Discovered in the early 1990s, scientists found there are two types: BRAC1 and BRAC2. While Ettema explained everyone has the gene, the problem occurs when they mutate and become too long or too short; then, these genes no longer work to suppress tumors.

Mutation of these genes has been linked to the development of hereditary breast and ovarian cancer, and mutations may also increase a woman’s risk of developing gastric, pancreatic and colon cancer, as well as melanoma.
The mutations may, additionally, increase a man’s risk of developing breast, prostate, pancreatic and colon cancer, as well as melanoma.
Ettema learned the gene came to her through her father’s side of the family, which was a surprise. “My dad’s cousin called and told Dad that she was positive for the BRAC2 gene and that he should be tested,” she shared.
“Everyone asks about the mother’s side of the family, not the father’s. I wasn’t worried, because I just had a normal mammogram six months earlier.”
Three months after finding out about her father’s cousin’s results, in April 2010, Ettema was diagnosed with breast cancer. “I called Dad’s cousin and she sent me the gene sequence she had done. I have the same 9168insA gene mutation that she does. It is so weird; she lives in Iowa and it is the same number.”
Ettema soon encouraged her siblings to be tested.  All were able to use the genetic sequence done by their second cousin in Iowa and like Ettema, then they just needed to be tested for the one gene.

“My younger sister and older sister were both positive for the gene. When positive, you get an ultrasound and/or MRI. My younger sister had a one-centimeter tumor that had spread to her lymph nodes.
“You have a 56 to 88 percent chance of developing breast cancer before the age of 70 (with this). We all had double mastectomies,” she explained, to help ward off the chance of recurrence – and in her older sister’s case, to reduce the chance of cancer.

“Dad is an obligate carrier; because we were all positive, he didn’t have to test,” she added.

Ettema’s father has two brothers. His middle brother tested positive for the gene, and the oldest passed away at the young age of 51 from a brain tumor. Ettema’s brothers also tested positive. One brother, who already had children, his wife had a tubal ligation so they would not have any more children; there is a 50 percent chance of passing the gene from one generation to another.
Ettema said with the diagnosis of this gene, she realized women need to be more aware of the danger of breast and ovarian cancer and that men and women need to start receiving colonoscopies at an earlier age of 30-35. Men should have a digital rectal exam to examine the prostate gland sooner, she added.

Ettema took it upon herself to share this health issue with cousins and other family members who continue to be diagnosed with the BRAC gene and beyond.
While farming families are usually honest and open about most things, medical history is not always one of those topics they discuss. Because of the importance of genetically-passed diseases, Ettema’s advice is to share medical history with children and grandchildren: “What you know can save a life.”