AYA Cancer Genetics

What is Genetic Testing?

Genetic testing looks for specific inherited changes (mutations) in a person’s chromosomes, genes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a person’s chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 percent of all cancers.

Cancer can sometimes appear to “run in families” even if it is not caused by an inherited mutation. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patterns—such as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically develops—may suggest the presence of a hereditary cancer syndrome.

Hereditary Cancer Syndrome

The genetic mutations that cause many of the known hereditary cancer syndromes have been identified, and genetic testing can confirm whether a condition is, indeed, the result of an inherited syndrome. Genetic testing is also done to determine whether family members without obvious illness have inherited the same mutation as a family member who is known to carry a cancer-associated mutation.

While inherited genetic syndromes are responsible for only a minority of Adult & Young Adolescent (AYA) cancers, these syndromes greatly increase risk of cancer during adolescence and young adulthood and can often alter the cancer therapy plan.  Additionally, many of our AYA patients have siblings or children that may require additional testing or cancer screening should an inherited cancer syndrome diagnosis be made. (Source: NCI)

Prisma Health Cancer Institute has a dedicated Cancer Genetics program led by Dr. Carla Jorgensen and Dr. Kim H Yee. Additionally, three board certified genetic counselors are on site to guide patients and their families through the testing process.