Improved genetic screening methods could identify breast cancer risk

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By Kacie Goode

Those with a family history of cancer could be more likely to develop cancer themselves, but new genetic screenings aim to identify that risk and take steps to improve treatment and prevention.


According to Dr. Amy Farrell of KentuckyOne Health Obstetrics and Gynecology Associates in Bardstown, gene mutations account for 5-10 percent of all breast cancers. Patients with a family history of the disease can benefit from the testing.

Mutations, which can be inherited and passed to both men and women, greatly increase one’s risk of developing breast cancer because genes such as BRCA1 and BRCA2 produce tumor-suppressing proteins that work with PALB2 to ensure the stability of the cell’s genetic material, according to an article from Flaget Memorial Hospital.

Women with the BRCA1 gene mutation carry a 55-65 percent risk, and those with BRCA2 gene mutation carry a 45 percent risk of breast cancer development by age 70.

During genetic screenings, abnormal genes can be detected through saliva and blood samples.

While a physician will conduct the test itself, a genetics counselor is often on hand prior to the screening and throughout the process to meet with patients. The counselor can gather a detailed family history to determine if a screening is needed.

“We want to get what we call the three-generation pedigree,” said Jessica Pack, a genetics counselor with KentuckyOne Health. “That would be the patient, their parents and grandparents, and their children if they have any.”

Pack has been a counselor for five years, working with KentuckyOne the past two. In her role, she often travels to the Flaget Cancer Center where she speaks with patients.

“What we are trying to do is figure out, do they have something in their genes that they were born with that puts them at an increased risk?” Pack said. If they do, she said, they can look at ways to prevent cancer or reduce the risk.

“We’re never going to tell you that you’re at an increased risk and then send you out the door,” she said. “We’re going to make a plan for you going forward.”

That plan could include changing the types of screenings or prevention the patient is undergoing.

“Increasing the frequency, the age they start, or incorporating new screenings such as breast MRIs instead of mammograms,” she said.

Pack said she’s encountered patients that have had up to a 90 percent chance of developing breast cancer, and in those high-risk cases, counselors can discuss options of preventative surgeries as well.

Identifying abnormalities is not only beneficial for the initial patient, but also their family members.

“If we do find something that is going on in a family, then we try to find family members that this could also be applicable for,” testing children and siblings of a positive patient, Pack said. “So we can really get the full picture for the family to help them make the decisions they need.”

Pack also stressed the improvements made in genetic screening for breast cancer, and why even those who may have been screened before should consider new testing. New testing can look beyond the BRCA1 and BRCA2 genes to many more possible mutations.

“Technology has gotten a lot better and we’ve learned a lot more,” she said, adding that panels of genes can now be looked at. “We think that it’s something going on with hereditary breast cancer, so here’s this test that looks at 17 genes.”

Genetic screenings can be done for other types of cancer as well.

Flaget officials advise that genetic testing can have the same physical side effects as having blood drawn, such as fatigue or slight bruising. Counselors can also help with psychological effects of the screening, such as dealing with results that may indicate a high risk.

In addition to genetic testing, all women over the age of 40 should receive annual mammograms in an effort to monitor possible breast cancer development.

Under the Affordable Care Act, genetic testing is considered preventive care for women at high risk of inheriting the gene mutation, according to Myriad Genetics, the lab that analyzes the tests, requiring no out-of-pocket expenses for most insured patients.