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Genetic Testing to Improve Cancer Treatment and Screening

Erlanger’s Medical Genetics team provides risk assessment for individuals with personal and/or family histories of cancer to determine the likelihood of an inherited genetic cause for the cancer in their family.

Cancer is a common disease with complex causes, many of which are not completely understood. Advances in cancer genetics have led to the identification of genes that, when altered, cause a significantly increased risk for certain cancers. Although most cases of cancer are not due to single, inherited gene alterations, approximately 5-10% of cancers are hereditary.

Some of the features often seen in hereditary cancer syndromes include:

  • Cancer occurring at younger ages than usual
  • Several relatives with the same or related cancers
  • More than one type of cancer in the same individual
  • Individuals with rare cancers, such as male breast cancer

In families with an inherited susceptibility to cancer, not all members of the family are at the same risk of developing cancer, and the risk may be increased for more than one type of cancer. Genetic counseling can help individuals and families better understand their cancer risks and the available options for cancer screening, risk reduction, and genetic testing (when appropriate).

After evaluating an individual’s personal and family histories, our genetic counselors will determine if genetic testing for hereditary cancer is appropriate. If testing is recommended, then typically a small amount of blood or saliva is collected.  The testing analyzes a person’s DNA for mutations, or changes, in cancer susceptibility genes that they were born with and that may have been inherited from one or both of their parents.

Tailored treatment for patients with cancer

Genetic test results can potentially affect a patient’s surgical management and other treatment options. For example, a woman with a newly diagnosed breast cancer who is a candidate for genetic testing may learn from her genetic test results that she is at an increased risk for a second breast cancer. This may help determine what kind of surgery is most appropriate for her current diagnosis in order to minimize future risk.

Better screening for those with a family history of cancer

Genetic test results showing an increased risk for certain cancers could lead to changes in a person’s cancer screening regimen. This may include performing certain screening tests more frequently and beginning at an earlier age. For example, if a person is known to have an alteration in a gene that puts them at a higher chance for colon cancer, it may be recommended that they have colonoscopies every year or two starting in young adulthood.  In some cases there may be medications or surgical options to lower the risk of cancer.

What are the BRCA1 and BRCA2 Genes?

The BRCA1 and BRCA2 genes are two of the most common genes associated with Hereditary Breast and Ovarian Cancer. Genetic mutations, or changes, in these genes cause an increased risk for breast and ovarian cancer in women and an increased risk for male breast cancer and prostate cancer in men. Other cancers have also been associated with mutations in the BRCA1 and BRCA2 genes.

Of note, mutations in other genes besides BRCA1 and BRCA2 can also cause an increased risk for breast cancer.  Additionally, there are many different hereditary cancer syndromes that may involve other types of cancer besides breast cancer.



Related Erlanger Services

Medical Genetics


Genetic Counseling Staff