Approximately 7 to 10 percent of breast and ovarian cancers occur because an inherited gene mutation is transmitted from parent to child. This mutation, known as a BRCA mutation, raises the risk of developing these diseases significantly; according to some experts, those with this mutation have an 85 percent chance of developing breast cancer.
If you have a family history of breast or ovarian cancer, genetic counseling and testing can help you make informed decisions about your health and your family’s wellbeing.
Initial Phone Conversation
At the Weill Cornell Breast Center, patients will often call for a consult with the Genetic Risk Assessment Program at the time of a breast cancer diagnosis, particularly if they have a family member who has had breast or ovarian cancer.
"One of the most important times to call our program is when you are first diagnosed with breast cancer because if you test positive for a BRCA mutation, you might change your surgery options," said Ann Carlson, a genetic counselor at Weill Cornell Medicine.
"For some women, this is an important piece of information in the decision-making process. People also tend to call us when a new breast cancer or ovarian cancer has been diagnosed in their family, which tips their level of concern to the point where they're very concerned. It may be the second or third such diagnosis in the family."
Calls that come into the Genetic Risk Assessment Program are answered directly by Ms. Carlson. If the patient is newly diagnosed, she can often schedule an on-site consultation for the same day, especially if a decision about surgical treatment is pending. The initial phone conversation may be 20 to 30 minutes during which time Ms. Carlson determines if genetic testing may be indicated and answers any questions.
"A call is not a commitment to further pursue genetic counseling or testing — it's an exploratory discussion to help guide the caller," she said.
Once a patient decides to have testing, an appointment is scheduled. A typical session starts with outlining the patient's family tree, emphasizing who in the family has had cancer, what type of cancer, and the age at time of diagnosis.
"Using the pedigree format rather than a straight list enables us to detect patterns of cancer in the family," Ms. Carlson explained.
The discussion also includes an explanation of BRCA genes and what it means to test positive for a BRCA mutation. It is important to note that everyone has the BRCA genes (BRCA-1 and BRCA-2), but it is the mutation of the gene(s) that is predictive for breast cancer.
"I always tell a patient what risks they would have if they carry a BRCA mutation, what options they have in terms of managing that risk, and the implications for other family members if they test positive," said Ms. Carlson.
Testing for the BRCA mutation is done either with a blood test or a saliva test, whichever the patient prefers. With the saliva test, a patient cannot eat, chew gum or drink (except water) for an hour before the test. A blood or saliva sample is collected at the end of the first appointment. Results of testing are available within two weeks.
If a patient tests negative for BRCA 1 and BRCA 2, but has a high risk for developing cancer due to other factors such as family history of cancer, there are now available 14 other genes related to breast cancer for which they can be screened. Patients will be advised whether they should consider this additional testing.
If the patient tests positive for a BRCA mutation, an appointment is scheduled with Ms. Carlson, our genetic counselor. She discusses what testing positive means for that particular patient, provides detailed information about her risk of developing cancer and explains the options available for lowering that risk.
Patients who have been diagnosed with breast cancer and test positive for a BRCA mutation may consider proceeding with a bilateral mastectomy rather than a lumpectomy or removal of the affected breast.
For those who test positive but do not have a diagnosis of breast cancer, the providers will generally advise on increased screening, which makes it possible to make the earliest diagnosis should breast cancer develop. They may also recommend certain medications to considerably lower the risk of ovarian cancer, or, recommend removing the ovaries.
With the Genetic Information Nondiscrimination Act of 2008 (GINA), which prohibits discrimination in health coverage and employment based on genetic information, patients who test positive do not need to worry about discrimination by health insurers or their employers.