Anyone can get breast cancer, but doctors now understand that people with a family history of cancer have a higher risk.

Mutations associated with two genes have been linked to an exponentially higher risk for breast cancer in both women and men. The genes are BRCA1 and BRCA2, named for BReast CAncer.

Normally, both genes make proteins that help repair damaged DNA, fix mutations in other genes and act as tumor suppressors, the National Cancer Institute of the National Institutes of Health says on its website.

But each gene is subject to more than 1,000 mutations, many of which cause the BRCA genes to produce defective proteins. Without the tumor-suppressor and DNA-repair proteins, normal cells can mutate into cancer and multiply to become tumors, the NCI explains.

“Around 7 to 10 percent of breast cancer is found to have pathogenic mutations,” Kimberly Knapp, genetic counselor, said at Joyce Murtha Breast Care Center in Windber.

Genetic testing is available through all area breast care programs. The tests screen for not only BRCA1 and BRCA1 mutations, but a growing number of other inherited cancer risks, Knapp said.

In addition to breast cancer, for instance, the BRCA mutations are associated with increased risk for ovarian, prostate, colon, pancreatic and skin cancers.

Women found to be a high risk for breast and ovarian cancer, and men with high risk of breast cancer are referred to Dr. Debra Sims’ high-risk clinic at Windber.

“They discuss what their options are,” Knapp said. “They can either have preventive prophylactic surgery to remove the breasts and ovaries. Or they can go for intensive screening.”

Genetic counseling

Surgical removal, known medically as a double mastectomy and oophorectomy, can eliminate the chance of breast and ovarian cancer. But the surgeries also come with major side effects, including early menopause.

High-risk patients who choose intensive screenings start getting regular mammograms at younger ages and have them more often. Instead of annual mammograms and clinical breast exams, high-risk women get seen every six months, alternating mammograms and magnetic resonance imaging tests.

Knapp worked with Dr. Raymond Weiss in Windber’s genetic testing program until Weiss retired last year. 

She then earned her own genetic counseling certificate through City of Hope cancer center in Duarte, California.

She continues to participate in the City of Hope’s Clinical Cancer Genomics Community of Practice.

“If I have any cases here that are really complicated, there is a weekly teleconference where I can get physicians’ input,” she said.

UPMC Health System has its own genetic counseling network available for patients at UPMC Altoona and UPMC John Murtha Regional Cancer Center in Johnstown.

Altoona breast surgeon Dr. Diana Craig said that is one of the benefits the Pittsburgh system brings to the region. Altoona patients are able to interact with the women’s health experts at Magee-Womens Hospital of UPMC in Pittsburgh.

“One of the biggest benefits of associating with Magee is the genetic counseling by telemedicine,” Craig said. “A patient in Altoona can talk face to face with a genetic oncologist in Pittsburgh.”

Discussing the genetic test results and prevention options with the experts saves patients time and travel, Craig said.

‘Family history’

Genetic counselors investigate the family history of cancer to measure the patient’s risk factors. The determination is often required for insurance companies to cover the tests.

More insurance companies are paying for the tests, said Dr. Natasha Singh, an obstetrician/gynecologist at Somerset Women’s Health Center, 867 W. Main St.

Those with a first-degree relative with ovarian cancer or breast cancer before age 50 may want to look into genetic counseling and testing, Singh said.

First-degree relatives include mothers, fathers, brothers, sisters, sons and daughters.

Those with numerous breast, colon, ovarian and pancreatic cancers in an extended family should also consider more investigation.

“Family history plays a role,” Singh said. 

“Maternal more than paternal.”

Craig said more people are getting the tests each year. If mutations are found among the relatives, of a cancer patient, the genetic experts want to learn more, Craig said.

“They like to test the person with the cancer,” she said, “They can zero in on where the mutation is.”

Sims warns that women with no family history for cancer and those who have tested negative for known gene mutations should continue to get regular mammograms and be aware of changes in their breasts.

“About 55 percent of women who get breast cancer have no risk factors,” Sims said. 

Randy Griffith is a multimedia reporter for The Tribune-Democrat. He can be reached at 532-5057. Follow him on Twitter @PhotoGriffer57.