Terry M. Gibbs, DO, NCMP
Disease risk is an important issue to discuss with your healthcare provider during midlife. Women may benefit from assessment of risk for osteoporosis, heart disease, diabetes, and cancer. Screening for familial cancer is a newer area of risk assessment. Familial cancers, in which a mistake or mutation in a single gene is transmitted from one generation to the next, predisposes the affected individual to a certain cancer or cancers, putting the individual at very high risk for developing that particular cancer or cancers in their lifetime. This risk is much higher than any environmental risk and happens in up to 5% to 10% of cancers.
Some characteristics of familial cancer include:
- Cancer in more than two close relatives
- Earlier age at diagnosis than is common
- Multiple primary tumors
- Bilateral cancer or multiple rare cancers
- Tumor types that are consistent with a cancer syndrome; for example, both breast and ovarian cancer in the
same family
- Breast cancer on the paternal side is also a risk factor for breast cancer
- Evidence of cancer in every generation
What are some benefits of knowing if one has a specific gene that can cause cancer? To answer this question, let’s look at an example using the best known cancer gene, the BRCA (breast cancer) gene. This gene is responsible for most of the inherited breast cancers. An individual with a mutation in this gene has a 40% to 85% lifetime risk of developing breast cancer. In addition, they have a 15% to 40% chance of developing ovarian cancer in their lifetime as well as having a 40% to 60% chance of developing breast cancer in the other breast. The benefits to knowing one harbors a BRCA gene mutation include:
- Certain preventative treatments can lower the risk of recurrent breast cancer by 90% and the risk of developing ovarian cancer by 90%.
- If a sibling of a patient with a known mutation in a BRCA gene gets tested and has not inherited the same gene mutation, that individual and their offspring are at no increased risk of cancer. In other words, they would have the same risk of developing breast cancer as the general population.
- If the offspring of a patient with the BRCA gene mutation also gets tested and are negative, they are also not at any increased risk for breast and ovarian cancer.
Common concerns that people have regarding doing gene testing include:
If tested, can’t my insurance company discriminate against me? No, the federal Genetic Information Nondiscrimination Act (GINA) laws protect people against genetic discrimination. The problem with insurance is that testing may not yet be a covered benefit.
Where can I learn about and get tested for familial cancers? The best way to get the test and counseling is to call a cancer center at a large community hospital or university hospital. Some private practitioners and oncologists know enough about the test to have it ordered for the individual. However, most practitioners are not prepared to counsel the patient regarding results, which is a very important component of the testing. For instance, what if there is a lot of cancer in a family, but all the tests are negative? Also, certain cancers can be caused by several genes and it is important to get counseling to decide which test is the right one for the individual. So, a hospital is the surest route. Seeing the genetic counselor first may even result in determining that a test is not necessary.
Visit the American Cancer Society Web pages on heredity and cancer.
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