Hereditary Breast and Ovarian Cancer: BRCA and Your Patient

From CDC Expert Commentary Katherine Kolor, PhD, CGC Posted: 10/10/2011 Hello, I am Dr. Katherine Kolor from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). I am speaking to you as part of the CDC Expert Commentary Series on Medscape. Today I would like to talk to you about hereditary breast and ovarian cancer. I will describe how basic family history information can be used to help determine whether your patients might be at increased risk for hereditary breast and ovarian cancer and could benefit from genetic counseling and evaluation. The US Preventive Services Task Force (USPSTF) issued a recommendation in 2005 that women whose family history indicates an increased risk for hereditary breast and ovarian cancer associated with mutations in the BRCA1 and BRCA2 genes be referred for genetic counseling and evaluation for BRCA genetic testing. This is a preventive service covered under the Affordable Care Act. Available research suggests that in the United States as many as 3 out of 4 women with relevant family histories who might benefit from genetic counseling for hereditary breast and ovarian cancer have not used these services. Most breast and ovarian cancers that occur in women in the general population are not hereditary. Only 3%-5% of women who develop breast cancer and about 10%-15% of women who develop ovarian cancer have an associated BRCA1 or BRCA2 mutation. For women who have a BRCA mutation, the risk of developing breast or ovarian cancer is greatly increased, with current risk estimates ranging from 50%-85% for breast cancer and 10%-40% for ovarian cancer by age 70, and important steps can be taken to help lower risk for cancer in these women. Women With BRCA Mutations Do Have Options For women with BRCA mutations, the USPSTF found fair evidence that prophylactic bilateral mastectomy reduces breast cancer risk by 85% or more, and prophylactic oophorectomy reduces ovarian cancer risk by 85% or more and breast cancer risk by 53% or more. Thus, the potential benefits of genetics referral and evaluation for these women can be substantial. The USPSTF found insufficient evidence to determine the benefits of chemoprevention or intensive screening in improving health outcomes for these women. This continues to be an active area of research, and women who are at risk should carefully review their options with a healthcare provider knowledgeable about medical management of women with BRCA mutations. How Can We Identify Women Who Might Be at Risk? Your patient might be at increased risk of having BRCA mutations if her family history includes one or more of the following in her first- or second-degree relatives (Remember that the maternal and paternal sides of the family are equally important.): Several relatives with either breast or ovarian cancer -- generally, 2 or more with ovarian cancer and 3 or more with breast cancers on the same side of the family; Breast cancer at a young age (under 50 years); A combination of breast and ovarian cancer among relatives; A relative with primary cancers of both breasts; A relative who had both breast and ovarian cancer; A male relative with breast cancer; Ashkenazi Jewish ancestry and any first-degree or 2 second-degree relatives with breast or ovarian cancer on the same side of the family; and A relative with a known BRCA mutation To help identify women who could benefit from referral to genetic counseling and evaluation, collect this information from your patient, and review it in the context of the family history patterns outlined in the USPSTF recommendation. Also, encourage your patients to verify and update this information from family members regularly, notifying you if additional cases of breast and ovarian cancer occur. Note that the family history patterns outlined in the USPSTF recommendation are provided as a guide and do not capture all possible families that could benefit from genetic counseling and evaluation for BRCA testing. If you or your patient is concerned about her family history, then a consultation with a cancer genetics specialist or counselor can help determine whether genetic testing might be helpful. While the USPSTF recommends genetic counseling and evaluation for BRCA testing for women whose family history is associated with an increased risk for BRCA mutations, it recommends against routine referral for women without an increased family history risk. It is also important to note that the USPSTF recommendations were focused on women without a personal history of breast or ovarian cancer. Women affected by these cancers may also benefit from genetic counseling and evaluation for BRCA testing. In closing, remember that: Most of your patients aren't at increased risk for BRCA mutations, but patients with increased family history risk patterns as recommended by the USPSTF could benefit from genetic counseling and evaluation for BRCA testing; Genetic counseling by a suitably trained health care provider is important to help women make informed decisions about BRCA genetic testing; Women with BRCA mutations can take effective steps to lower their risk for breast cancer and ovarian cancer; Genetic testing for BRCA mutations will not find all causes of hereditary breast or ovarian cancer; and Health insurance often, but not always, covers the cost of genetic counseling and BRCA testing. For additional information, links to the USPSTF recommendation and other resources are provided below, as well as a table to help determine your patient's family history risk category. Thank you. Table. Breast and Ovarian Cancer and Family History Risk Categories http://www.medscape.com/viewarticle/749018?src=mp&spon=17