Searching for cancer genes

COURTESY PHOTO Cindy Merrill, Lee Cancer Care genetic counselor. Convinced that breast cancer was in her future, Cherie French was planning on having a mastectomy until she underwent genetic testing and found out she did not carry the gene.

"My great grandmother, my grandmother and my mother had breast cancer," said French, 41, who is six months pregnant with her first baby. "I had the testing done, thinking it was a possibility of doing a bilateral mastectomy. I started the conversations, lining up family."

Lee Cancer Care genetic counselor Cindy Merrill said she typically sees 150 to 180 people a year for genetic testing. While most of her clients come to her after being diagnosed with cancer, others are like French and concerned about carrying the gene.

Merrill said those who have had breast cancer and test positive for the BRACA 1 gene have a 19 to 20 percent chance of having the cancer reoccur while those who test positive for the BRACA2 gene have a 11 percent chance of having the cancer reoccur within five years.

The BRACA tests are looking for the genes that cause breast or ovarian cancers. Merrill said she does the most of this type of testing. Most insurances cover the cost if there has been a cancer diagnosis or a strong family history. The test costs $3,120. If it comes back positive for the gene that causes cancer, the rest of a family can be tested for $385.

Merrill also tests for Lynch Syndrome, which encompasses other cancers including colon, brain, stomach, gastrointestinal and ovarian.

"Once becoming diagnosed with cancer, decisions become a big issue," said Merrill. "It's not something light. It can affect the whole family so the impact is great. We're looking at possible surgery, surveillance and chemotherapy."

As part of the genetic testing, Merrill looks at family tress going back three generations. She looks at types of cancers being diagnosed and at which age they were diagnosed.

"I'm looking for multiple generations," Merrill said. "Of all cancers, only about 10 percent are hereditary. Ninety percent are sporadic. I'm not looking for those. I'm looking for the 10 percent. I'm looking for younger cancers or ovarian at any age. I'm looking at nationality. Some nationalities are at a higher risk."

Merrill takes a blood sample and sends it off to Salt Lake City. It's the only lab in the country that conducts this type of genetic testing, Merrill said. Three weeks later, she receives the results of the tests.

A third of the people who undergo the testing come back positive, Merrill said.

"When they're positive, they want to know all of their options and that's very important," she said. "Sometimes they cry. Sometimes they just say 'I knew it and I know what I'm going to do.' There is a guilt sometimes with parents who have passed it on to their children."

Sometimes, though, despite a lengthy family history of certain types of cancer, the tests come back negative, as was the case with French.

"My mom was diagnosed at 45 and died at 48," she said. "I had such a family history of breast cancer and I think that's why they were suspicious. But, I actually came back completely negative and they say my chances of getting it are the same as the general public. Why go through with a mastectomy if it may or may not happen? I'm glad the service was available. I could have possibly had a procedure that didn't need to happen. I was pretty lucky, I think."

Still, French said that despite the negative test she was relieved when she found out that she is carrying a boy rather than a girl.

"If I had a girl, would she have to deal with all of this junk? It's kind of crazy how many people in my family have had cancer," French said.

Merrill said that every year, she tests more people.

"It's on the cutting edge," she said. "It's going to explode, genetics. It's exciting. So much research is going on regarding genetics."