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Discoveries in Your DNA: Identifying Cancer Risk in Your Genetics

Publication: Austin Medical Times, Corsicana Daily Sun, Houston Medical Times

Exciting research in oncology is shifting toward a more personalized approach to cancer prevention and treatment – starting with genetics. The genetic blueprint that determines your hair and eye color also shapes your risk for developing certain diseases, such as cancer. Genetic testing offers a window into examining your unique DNA – allowing you to better understand your risk for developing cancer and take proactive steps for early detection and prevention.

Genetic Mutations

All cancers are caused by harmful changes, or variants (also called mutations), in genes. Cancer genes work to protect our bodies from developing cancer, but when a cancer gene contains a harmful variant, the gene cannot function correctly and does not protect against cancer as well as it should. This leads to a higher risk for cancer. These harmful variants can be inherited, which account for 5%-10% of all cancers, or acquired, which are often a result of the normal human aging process. Inherited variants increase risk of certain cancers, often at a younger age than expected, and they can be passed to future generations.

More than 50 different hereditary syndromes increase risks for cancer. Most hereditary cancer syndromes are rare, but some are more common than others. One in 190 people have a harmful variant of the BRCA1 or BRCA2 gene, which causes Hereditary Breast, Ovarian, and Pancreatic Cancer Syndrome. About one in 279 people have Lynch Syndrome, the most common cause of hereditary colon and uterine cancer. Lynch syndrome is caused by a harmful variant in the MSH1, MSH2, MSH6, PMS2, or EPCAM genes. Testing for harmful variants in these and other important cancer genes helps identify people with increased cancer risks, allowing them to make more informed health decisions.

Genetic Evaluations and Testing: What to Expect

Genetic evaluations should be considered for individuals with concerning personal and family histories of cancer and those interested in learning more about their own cancer risks. A genetics professional will take a detailed medical history to determine if genetic testing would be helpful for you or your family. Genetic tests are usually performed on a blood or saliva sample. They examine a subset of your genes to look for harmful inherited variants that could increase your chance of developing cancer. Sometimes genetic testing is done on tumors; these tests help determine the most effective cancer treatment, but they do not explain the cause for cancer, nor do they indicate if an individual has increased risks for cancer.

Genetics tests can be expensive and difficult to interpret. Genetics providers can guide you to the best test for you and discuss any concerns about cost, insurance coverage, and privacy. They also translate what the results mean for you and your family and discuss options for cancer screenings, prevention, and treatment.

Is Genetic Testing Right for You?

Concerning factors in a family may include cancer in multiple generations, multiple family members with the same cancer, multiple cancers in one person, and cancers diagnosed at young ages. Talking to family members about their medical histories can help you better decide if a genetics evaluation would be warranted. Meeting with a genetics professional can help you understand your cancer risks, offer relief from uncertainty, and provide helpful information for your family that could potentially prevent cancer and save lives. If you have any questions about your cancer risks or are interested in learning more about genetic testing, talk to your healthcare provider about a referral for a genetic evaluation. And remember, regardless of testing, it is important to maintain regular cancer screenings.

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