The Centers for Disease Control and Prevention reports that nearly 300,000 women in the United States are diagnosed with breast cancer each year. Certain gene mutations can increase the risk of developing breast cancer and certain other cancers, and through genetic testing, the genes can be detected and can help save lives.
The majority of cancers are sporadic, or not inherited. Various factors increase the likelihood of a hereditary cancer syndrome, including the type of cancer, the age at diagnosis, multiple cancers in the same patient, clustering of breast, gastrointestinal and gynecologic malignancy in close relatives, or certain cancers arising in patient of Ashkenazi (central or eastern European) Jewish ancestry.
BRCA1 and BRCA2 are genes that usually help protect our bodies from cancer. However, when either of the genes are mutated, or altered, it intensifies a woman’s lifetime risk of breast and ovarian cancer.
Genetic testing can find these mutations and allow patients to consider treatments that reduce the risk of developing breast or ovarian cancer, or pursue more frequent screening tests to help detect disease at an earlier stage.
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Testing can be done on patients with a personal history of malignancy, or those who are unaffected and have a strong family history of cancer. Blood or saliva samples can be tested for mutated genes that can cause an increased risk of cancer.
In addition to giving patients information about their cancer risk, test results can lead to feelings of anxiety, depression, anger, or guilt. These feelings can arise because of results indicating an increased risk of cancer, uncertain or negative test results. Due to the complexity of genetic testing, genetic counseling is the first step you should take when considering testing.
Genetic counselors are specially trained in cancer genetics and help provide information, resources and support that are needed for decision making about testing. A counselor will collect a detailed personal medical and family health history to determine which testing option is right for a patient.
Testing options, cost, risks and benefits are then reviewed to help patients decide if they wish to submit testing. If not done before testing, genetic counseling is recommended afterward to help the patient better understand their results and their ongoing risk of developing cancer based on family history.
Genetic counseling and testing can empower patients with a strong family history to consider surgery, medical therapy, or other lifestyle modifications to reduce the risk of developing cancer. Despite testing being available outside of counseling, meeting with a genetic counselor is imperative for the selection of genetic testing and interpreting the results, since many tests are available and they vary in quality and information gained.
If you have a family history of breast or ovarian cancer, talk to a physician about a referral to a genetic counselor. A genetic counselor will help you weigh risks and benefits, alleviate any fear and stress, and provide the insight needed to help minimize your risk of developing cancer.
Dr. Jessica Croley is with KentuckyOne Health Hematology and Oncology Associates.