Patients referred to cancer genetics undergo consultation with a genetic counselor who offers a comprehensive analysis of their cancer risk based on genetics, familial and lifestyle factors. Each person receives information and recommendations for a personal approach to cancer prevention, which may include recommendations for:
Genetics and Prevention Program
455 Toll Gate Road
Warwick, RI 02886
P: (401) 736-3737
Call the Kent Breast Health Center at (401) 736-3737
New patients are required to fill out extensive family history and new patient questionnaires prior to their first visit in order for the counselors to prepare their recommendations. Patients who have not prepared their packet ahead of time will be rescheduled.
Most breast and ovarian cancer cases are not caused by hereditary predisposition. Approximately 10 percent of ovarian cancers and five to seven percent of breast cancers are hereditary. The majority of the hereditary cases result from mutations, or changes, in the BRCA genes, which cause a condition known as Hereditary Breast and Ovarian Cancer Susceptibility syndrome (HBOCS). Other genes, many of which are unknown, may also cause hereditary cancers. Gene mutations result from damage to the cell’s DNA. Mutations in the BRCA genes are believed to have occurred in the distant past and are not believed to occur spontaneously today. Therefore, it is expected that gene mutations are inherited from a parent.
This is why most individuals with breast cancer gene mutations will have a family history of premenopausal breast and/or ovarian cancer. We inherit half of our genetic material from each of our parents. If a parent is a carrier of a gene mutation, there is a risk that the mutation could be passed on to each child. If a person is a carrier of a BRCA mutation, each child has a 50% risk of inheriting it. Mutations within the BRCA genes are especially common in the Ashkenazi Jewish population. Approximately 1 in 40 Eastern European Jewish individuals are expected to be carriers.
Our Cancer Genetics and Prevention Program offers blood and saliva tests to identify genetic mutations. Your genes function as your body’s instruction manual. They are made up of letters from the genetic alphabet. Normally, your body is able to “read” these genes in order to carry out the gene’s function. A mutation is essentially a “misspelling” within the gene code. There are several testing options which will be reviewed by your genetic counselor.
Patients are counseled first since the test results could have a major impact on their medical care and that of their family. It is important that the patient makes an informed decision about the blood test, so a risk assessment is performed before the testing is even discussed. The assessment helps the patient understand her chance of testing positive for a gene mutation. Patients who test positive for a mutation must decide how to manage their increased risk. In addition, a positive result means other family members may also have significantly increased cancer risks or greatly overestimate their cancer risk.
Genetic testing is not designed for the general population. Most families with breast or ovarian cancer will not carry a gene mutation. This test is appropriate for women with a personal and/or family history that includes:
Women who are found to carry a BRCA or other cancer genetic mutation may have a significantly elevated risk of breast and ovarian cancer. There are management guidelines established for people who carry genetic mutations. Options can include:
It is important to remember that a positive test result does not mean the person will develop cancer, just that they are at a higher risk.
If a patient decides she does not want to learn her genetic status, medical management recommendations are made based on the family history of cancer and the patient’s predicted lifetime cancer risks. Patients with strong family histories of breast and/or ovarian cancer may still be urged to follow a high risk screening regimen.