The United States Preventive Services Task Force (USPSTF) has issued recommendations for genetic screening for the BRCA1 and BRCA2 gene mutations that pre-dispose women to breast and ovarian cancer. The new recommendations appear in the journal Annals of Internal Medicine. While the USPSTF has no authority to mandate that their recommendations be followed, many physicians, clinics and insurance companies use them to guide patient care. This is the first recommendation the USPSTF has issued regarding genetic screening. While the Task Force does not recommend routine screening for the two BRCA genes, they do recommend screening for women with specific family medical histories. Women without these histories have a low probability of having the BRCA1 or BRCA2 mutated genes. Some examples of family medical histories that increase a woman's risk for inheriting the BRCA1 or BCRA2 mutation include:
- 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 aged 50 or younger.
- Women with a combination of three or more first or second degree relatives with breast cancer, regardless of age.
- 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 with 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).
Around 2 percent of women in the U.S. have family histories that might indicate an increased-risk for inheriting the mutated 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 the BRCA mutations involves three steps:
- Counseling and risk assessment by a trained professional.
- DNA testing for women deemed at risk for a mutation.
- Post-test counseling, where the results are disclosed and the patient and counselor discuss the results and what clinical options are available.
The recommendations stress the importance of knowing one's family medical history - both on the mother's and father's sides.
The full recommendations can be viewed at http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm
Based on a press release from the American College of Physicians
