After learning her mother tested positive for a genetic mutation that can lead to cancer, Kristin Gilhool decided to get tested, too.

Gilhool, of Elizabethtown, said she bears more of a physical resemblance to her father, so she fully expected the result to be negative.

"I still felt it wasn't going to happen to me," she said.

But when it turned out that Gilhool did, in fact, carry the mutation, she was able to take a course of action — including surgery — to drastically reduce her chances of getting cancer.

Gilhool and her mom, Reenie Hirschler, were both tested through Lancaster General Health's Cancer Risk Evaluation Program. CREP was established in late 2007, and as the caseload has grown it recently expanded to include a second genetic counselor and a clinic for high-risk patients.

The program tests for mutations in the BRCA1 and BRCA2 genes — which research has linked to increased incidence of breast, ovarian and other forms of cancer — and helps patients with treatment options.

CREP is part of LGH's Susan H. Arnold Center for Breast Health, housed at the Suburban Pavilion (formerly the Health Campus).

Research establishes link
Rachelle J. Gehr, a genetic counselor with the program, said it's a satellite of the University of Pennsylvania, which with it collaborates. Penn may be called in when CREP encounters difficult cases, she said.

Gehr has been joined by a second, full-time counselor, Erin Sutcliffe. Within a few years, the expectation is that gastrointestinal genetics will be added to the program as LGH completes its new Ann B. Barshinger Cancer Center, Gehr said.

And this summer, CREP opened a high-risk clinic for people who've either tested positive for a mutated gene or have an elevated personal risk of contracting cancer, she said.

A simple blood or saliva test determines if someone carries BRCA1 or BRCA2 mutations. It works like a spell checker, picking up any flaws in the genetic sequence, Gehr said.

She said patients don't need a referral from a specialist to enroll in CREP.

According to research, women with the mutated BRCA1 or BRCA2 gene are at 60-80 percent risk of contracting breast cancer; in contrast, U.S. females without the mutation have a 13 percent chance.

Women with the BRCA1 mutation also face a 30-45 percent risk of  ovarian cancer (compared with 1-2 percent for those without the mutation) and a 10-15 percent chance of getting colon cancer.

Females who don't carry the mutation have a 5-6 percent risk of developing colon cancer.

With a BRCA2 mutation, the risk for ovarian cancer is 10-20 percent.

Men with either mutation face increased risks, too. Those with BRCA1 have a 10-15 percent chance of falling victim to colon cancer; for those without the mutation, it's 5-6 percent.

Males having the BRCA2 mutation are at 15-25 percent risk of developing prostate cancer. Though the risk is not much higher than for men lacking the mutation, prostate cancer may develop earlier.

Those with a mutated BRCA2 gene also have a 5-10 percent chance of getting breast cancer, compared with 0.1 percent of men without the mutation.

There's a 50 percent chance a parent with a BRCA1 or BRCA2 mutation will pass it on to a son or daughter. If a child doesn't inherit it, his or her progeny won't, because the mutation doesn't skip generations.

Gehr said 5-10 percent of cancers are linked to genetic mutations. About one in 800 individuals inherits a mutated BRCA1 or BRCA2 gene.

If patients are deemed high risk because of their mutation status or personal/family history, they are seen  at the high-risk CREP clinic by Dr. Randall A. Oyer. He assists them in choosing a course of treatment that may combine medicine and regular exams as well as increased breast surveillance, such as digital mammography and bilateral breast MRIs, Gehr said.

Both are necessary, she said, because while a mammogram is an X-ray, a breast MRI shows blood flow. And congregating blood vessels could mean the formation of cancer, Gehr said.

One medication that may be prescribed, Tamoxifen, helps patients with an increased risk of breast cancer reduce that by 50 percent, she said.

Surgery is an option as well, Gehr said. Because of the elevated risk of developing ovarian cancer, it is recommended that women with BRCA1 or BRCA2 mutations get their ovaries removed in their late 30s or early 40s, before the onset of menopause, she said. If the operation is done at too young an age, Gehr said, the patient could experience side effects such as osteoporosis and an elevated risk of early-onset heart disease.

Until they reach the age for surgery, women can undergo regular screenings for ovarian cancer via blood tests and ultrasounds, she said.

Ovary removal also reduces the chance of getting breast cancer by 50 percent, Gehr said.

Males can be checked for breast cancer through chest-wall exams, she said. "Men oftentimes get overlooked" in the discussing of hereditary breast cancer, Gehr said.

Knowing is a relief
Kristin Gilhool was tested for the BRCA2 mutation.

When the test came back positive, Gilhool — mother of four young boys — was more worried about her mom's reaction than anything else.

Hirschler, 65, who has survived breast and ovarian cancer, didn't want her only daughter to have to experience what she did.

"Telling her was very hard," Gilhool, 38, said. "She fell on her knees and cried."

"I was devastated," Hirschler said.

Earlier this month, Gilhool had her ovaries, fallopian tubes and uterus removed to significantly reduce her cancer risk, and she is on a dose of estrogen, she said.

She'll also get mammograms and breast MRIs on a regular basis.

Gilhool said she and her mother are best friends, and she jokes with her about them being so close they belong to the "BRCA2 gene club."

Hirschler, of East Lampeter Township, said she's proud of how her daughter has handled everything. "She's a very take-charge kind of girl."

"I feel so lucky, compared to what my mom went through," Gilhool said. "I have the opportunity to take my health and own it."

When a test result is positive, it's recommended that other family members be tested. The youngest age for doing that at is typically the mid-20s, Gehr said.

Testing multiple generations also can narrow down what side of the family produced the mutation, she said.

She noted that a negative test for BRCA1 and BRCA2 doesn't necessarily mean no hereditary risk for cancer, because "there could be a gene we don't know about."

In many cases, people are relieved to hear there's a mutation because they finally have an explanation for the increased cancer incidence in their families, she said.

Millersville resident Jeff Weaver, 42, underwent testing after learning his mother carried a mutation.

His result came back positive for BRCA2, meaning Weaver's at greater risk for developing breast or prostate cancer.

A father of two daughters and two sons, he said he got tested "as much for [them] as myself."

And he's glad to know the truth, Weaver said. "Every piece of information you have helps you plan your life."

Paula Wolf is a staff writer for the Sunday News. She can be reached by e-mail at pwolf@lnpnews.com.