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Cancer and the family link


Augusta Health offers screenings for genetic cancer risk

It may come as a surprise that women are not the only ones at risk for breast cancer.

“We traditionally think of hereditary breast and ovarian cancer as related to women,” explains Donna W. Markey, RN, MSN, ACNP-CS, a nurse practitioner at the Augusta Health Center for Cancer and Blood Disorders. “However, men in an affected family have a 50 percent chance of carrying the same pathogenic variant.”

This rationale recently compelled a 52-year-old man to visit Augusta Health’s genetic risks program. Because his sister had tested positive for a variant of the BRCA2 gene that can lead to hereditary breast cancer, she urged him to get tested.

The results came back positive. He had the same variant of the BRCA2 gene as his sister, meaning he has an increased risk of breast cancer, prostate cancer, pancreatic cancer and certain skin cancers. His healthcare team has since created a surveillance plan for him that involves regular clinical exams, lab testing, dermatologic exams and pancreatic cancer screening.

These exams, screenings and tests could one day save his life. But without genetic testing, he never would have considered them.

Early detection

Traditionally, the Center for Cancer and Blood Disorders, which houses the genetic risks program, would trace a patient’s family history and genetic risk once a cancer diagnosis had already been made. But recently, the center has increased its efforts to work with healthcare practitioners throughout the Augusta Health system to identify patients who might be good candidates for genetic testing before a cancer diagnosis is made.

“If a doctor takes a family history that shows a high risk for an individual who’s never had cancer, they refer them to us for risk assessment and screening because that’s the essence of prevention — getting to people before they ever have cancer to try to prevent them from having it,” Markey says.

Taking action

If a patient’s family history indicates a high risk for a certain cancer, the program will work with him or her to do screening that is based on standardized national guidelines. If someone tests positive for a genetic mutation, he or she can then work with the program to take the recommended preventive action.

If someone has a genetic mutation that increases his or her risk for developing a particular cancer, Markey says taking appropriate preventive action can significantly lower one’s future risk of developing that cancer. With a BRCA2 mutation, for example, a patient’s lifetime survival can almost approach that of someone without the genetic mutation if certain proactive measures, such as a mastectomy, are taken.

“The impact of testing is really significant in the lives of individuals who have these gene mutations because it really, truly prevents them from getting a life-threatening cancer,” Markey says.

To learn more about the genetic risks program at Augusta Health, call (540) 332-5960.