New recommendations for screening for BRCA1 and BRCA2 gene mutations

The United States Preventive Services Task Force issues new recommendations for screening for BRCA1 and BRCA2 gene mutations in the Sept. 6, 2005, issue of Annals of Internal Medicine.

The Task Force does not recommend routine screening for the two BRCA genes, which increase a woman's risk for developing breast and ovarian cancer. The Task Force does recommend screening women with specific family medical histories.

This is the first time that the Task Force, a respected independent panel of experts in prevention and primary care, has addressed a decision about genetic screening.

The recommendations will be posted on Web sites of Annals of Internal Medicine, [http://www.annals.org/cgi/content/full/143/5/355], and of the Agency for Healthcare Research and Quality, [http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm].

The BRCA screening recommendations are also the subject of a video news release produced by the American College of Physicians, publisher of Annals of Internal Medicine.

Women without one of the family history patterns listed below have a low probability of having a mutation in BRCA1 or BRCA2.

Examples of family medical histories that increase a woman's risk for inheriting a BRCA1 or BCRA2 mutation:

• Women of Ashkenazi Jewish descent with any first-degree* relative (or two second-degree relatives on the same side of the family) with breast or ovarian cancer
• Women with two first-degree relatives with breast cancer, one of whom received the diagnosis at age 50 years or younger
• Women with a combination of three or more first- or second-degree relatives with breast cancer, regardless of age at diagnosis
• Women with a combination of both breast and ovarian cancer among first- and second-degree relatives
• Women with a first-degree relative with bilateral breast cancer
• Women with a combination of two or more first- or second-degree relatives w/ovarian cancer, regardless of age at diagnosis
• Women with a family history of breast or ovarian cancer that includes a relative w/a known deleterious mutation in BRCA1 or BRCA2
• Women with a history of breast cancer in a male relative.

*A first-degree relative is defined as a parent, sibling or child. A second-degree relative is a relative with whom one quarter of an individual's genes is shared (i.e., grandparent, grandchild, uncle, aunt, nephew, niece, half-sibling).

The new USPSTF recommendations apply only to women who do not currently have breast or ovarian cancer, i.e., have not received a diagnosis of breast or ovarian cancer.

About 2 percent of adult women in the United States have family histories that indicate an increased-risk for inheriting mutations in the BRCA genes. But, not all women with these family histories will have inherited a mutation, and not all women with a BRCA mutation will develop breast or ovarian cancer.

Screening for BRCA mutations involves three steps:

• counseling and risk assessment by a trained professional
• DNA testing (a blood test) for women deemed at risk for a mutation
• post-test counseling, where the results are disclosed and the patient and counselor discuss the results, what clinical decisions or options are available and what the test results mean for other family members.

In an accompanying editorial, "Taking Family History Seriously," Wylie Burke, MD, PhD, professor and chair, department of medical history at the University of Washington, stresses the importance of knowing one's family medical history -- both the mother's and father's history.

Wylie also said, in the editorial, that the new USPSTF recommendations will help primary care doctors and women face the complexities of gene testing: "whether to pursue BRCA testing, the appropriate timing, the best way to involve family members in the testing process and the tradeoffs, and uncertainties involved in the different preventive strategies available to women found to have a BRCA mutation."

The USPSTF, an independent panel sponsored by the Agency for Healthcare Research and Quality, has no authority to mandate that their recommendations be followed. However, many physicians, clinics, insurance companies and professional medical organizations, such as the American College of Physicians, endorse their recommendations or use them to guide patient care.