BRCA testing against breast and ovarian cancer encouraged for high-risk women
BRCA testing against breast and ovarian cancer encouraged for high-risk women
23/12/2013
Family history of breast or ovarian cancer triggers a recommendation for women to undergo testing for mutations in the BRCA cancer susceptibility genes.
The recommendation comes from the U.S. Preventive Services Task Force (USPSTF) applies only to women who have a positive family history of the cancers. The USPSTF recommended against routine genetic counseling or testing for women who do not have a family medical history associated with BRCA mutations.
The recommendation does not include men, although male family members might be identified for testing during the evaluation process, according to the report appearing online in the Annals of Internal Medicine.
"This recommendation applies to women who have not been diagnosed with BRCA-related cancer and who have no signs or symptoms of the disease," USPSTF chair Virginia Moyer, MD, of Baylor College of Medicine in Houston, and colleagues noted in their summary. "Women who have one or more family members with a known potentially harmful mutation in the BRCA1 or BRCA2 genes should be offered genetic counseling and testing.
"The USPSTF recognizes the potential importance of further evaluating women who have a diagnosis of breast or ovarian cancer. However, that assessment is part of disease management and is beyond the scope of this recommendation."
The recommendation pertains only to genetic testing and counseling in the primary care setting, the authors noted.
The subject of BRCA testing garnered a lot of publicity recently when actress Angelina Jolie announced that she had undergone a prophylactic double mastectomy after testing positive for the gene.
For women who do have a positive family history of BRCA-related cancers, the USPSTF cited several brief risk-assessment tools that primary care providers can use to determine the need for in-depth genetic counseling. Examples include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, and the FHS-7.
In general, the instruments have sensitivity estimates greater than 85%, although some tools have undergone limited testing in studies.
Genetic counseling about BRCA mutations can be performed by appropriately trained healthcare professionals, including primary care providers, according to the USPSTF.
When a patient has a personal or family history suggesting inherited cancer susceptibility, testing should occur only when an individual has access to a health professional who is trained to provide genetic counseling and interpret test results, and when test results will aid in decision making.
When feasible, initial testing for BRCA mutations should involve a family member who has breast or ovarian cancer. In the absence of an affected family member, testing the patient is a reasonable alternative.
"It is essential that before testing, the individual is fully informed about the implications of testing and has expressed a desire for it," the authors said.
Evidence to support intensive screening for BRCA mutation carriers is lacking, the USPSTF panel continued. Medications shown to reduce the risk of breast cancer in the general population have not been evaluated in BRCA mutation carriers. Studies have shown that surgery (including prophylactic mastectomy and salpingo-oophorectomy) can reduce the risk of breast or ovarian cancer.
Source: MedPage Today: http://www.medpagetoday.com/HematologyOncology/BreastCancer/43575