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Genetic screening signals risk early
October 21, 2016 Jerry Purvis   

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Statistics show that 5 to 10 percent of breast cancer is hereditary, passed through families; however, through genetic screening and early detection, survival rates are improving.

Cary Armstrong is the Senior Genetic Counselor with Invision Sally Jobe in Denver. They provide a risk assessment information program within the company.

“We talk with women who have a personal or family history of cancer,” she said. “Our goal is to help them better understand what their actual risks to develop cancer are. We can then work with a radiologist to make sure they’re being followed appropriately.”

Prior to the development of genetic testing – which identifies mutations in the two genes that can trigger breast cancer – patients were counseled to pursue increased screening based on family history.

Armstrong said the break-through came in the mid-1990s. Scientists studied families with high predisposition to breast cancer, where it was present in multiple family members and across multiple generations, often at earlier ages. Through that research, scientists were able to identify the genes they names as BRCA 1 and BRCA 2 (for breast cancer).

“Everyone has these genes, even men,” Armstrong said. “If there’s a mutation or a genetic change, it increases the chance of developing certain types of cancer.”

As more studies were conducted, she added, scientists discovered the same gene mutation can increase the risk for ovarian cancer. The condition is now called Hereditary Breast and Ovarian Cancer Syndrome

Other cancers that can be triggered by those gene mutations include breast cancer in males, pancreatic cancer, and sometimes melanoma.

“Counseling should always be a predecessor to genetic testing,” Armstrong said. “We review the patient’s family history and draw out a three-generation family tree. We then review their risks based on family history and discuss (if) there’s a likelihood for a genetic predisposition for cancer.”

Specifically, medical professionals look to national guidelines, such as the National Comprehensive Cancer Network, to determine the specifics regarding screening recommendations.

She emphasized that only about 10 percent of any cancer is due to a genetic predisposition. It’s important to identify those who fall into that percentage and alter their screening recommendations.

“The actual testing can be done either with a blood test or through saliva,” Armstrong said. “The sample is sent to a laboratory. When the results come back in two or three weeks, we can discuss the findings with the patient.”

Women who carry the genes are at greater risk of developing breast cancer. It’s recommended these women begin having a breast MRI (magnetic resonance imaging) at age 25, then adding mammograms at the age of 30. Both imaging and mammograms become an annual routine after that.

Armstrong said that women who are concerned about their risk for breast cancer should first see their family physician to get a better understanding of the risk factors. The National Society of Genetic Counselors website has information on nearby counselors who offer genetic screening.

“The good news is that insurance companies are covering genetic counseling and testing more often than not,” Armstrong said. “We’re making strides in understanding all of these different genes and knowing what to do about them.”
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