Cancer Risk and Genetic Testing

Kim Maxfield, RN
Clinical Research Coordinator Covenant Clinic

Both men and women are capable of having a mutation in the BRCA1 or BRCA2 genes. BRCA 1 and BRCA 2 are human genes that produce tumor suppressor proteins. When either of these genes is mutated or altered, the cells are more likely to develop additional genetic alterations that can lead to cancer. Both men and women have an increased risk of breast cancer if they have this mutation and each have an increased risk of additional types of cancer.

BRCA 1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. They also account for about 15 percent of ovarian cancers. These mutations can be inherited from a person’s mother or father. Each child of a parent that carries the gene mutation has a 50 percent chance of inheriting the same mutation. Women also have a higher risk of developing fallopian tube cancer and peritoneal cancer if they have the mutation.

Men who have the mutation are at an increased risk of breast cancer and also have a higher risk of prostate cancer. Both men and women have a higher risk of pancreatic cancer. These mutations are relatively rare in the general population so testing should only be done when a person’s family history suggests the possibility of a genetic mutation.

Some things that are assessed include:

• Breast cancer diagnosed before age 50
• Cancer in both breasts
• Both breast and ovarian cancers
• Multiple breast cancers
• Two or more primary types of BRCA1 or BRCA2 related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

It is generally recommended that a person talks to a health care professional that is experienced in cancer genetics to discuss risks, medical implications of test results, psychological risks and benefits, the risk of passing a mutation to children and an explanation of the specific tests that may be used. Testing is done by collecting blood or saliva for a DNA sample.
This sample is sent to a laboratory and takes about a month to receive results

For people with positive test results, there are many options available for managing their cancer risk.

• Enhanced screening which includes clinical breast examinations beginning at age 25 along with yearly mammograms and possibly breast MRI.
• Transvaginal ultrasounds and blood tests to help detect ovarian cancer. Men may also benefit from regular mammography and testing for prostate cancer.
• Prophylactic risk-reducing surgery. This may involve having both breasts removed in women and also surgery to have the ovaries and fallopian tubes removed.
• Chemoprevention is the use of drugs, vitamins or other agents to reduce the risk of or delay the recurrence of cancer. There are two drugs that have been approved by the FDA to reduce the risk of breast cancer in women at increased risk of cancer but the effect on women with the mutated gene is not yet clear.

Studies are currently being conducted to fine new and better ways to detect, treat and prevent cancer in people who carry the gene mutation. Knowledge in these areas are growing rapidly are constantly evolving.
For any questions or concerns about your risk please discuss with a healthcare professional.


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