To assess the risk of developing breast and/or ovarian cancer.
If a BRCA mutation is present in a family member; if you have a very strong family history of breast and/or ovarian cancer; if you have had a breast cancer under the age of 35 that is hormone receptor negative.
The test for BRCA mutations is done on a blood sample collected by needle from a vein in the arm. The test does not require surgical biopsy of breast or ovarian tissue.
Occasionally, alternative sample types might be possible, such as a mouth swab or spit sample.
Testing for BRCA mutations should be performed whilst under the care of a clinical genetics service. This is in order for patients to be fully informed and to allow appropriate consent for testing to be given.
No test preparation is needed.
The genetic code of two genes; the BRCA-1 and BRCA-2 genes will be analysed in detail to look for alterations (mutations) that are linked with an inherited tendency to breast and ovarian cancers. Most cancers will not be explained by such an alteration, but approximately 5% of all breast cancers have developed on the background of an inherited BRCA mutation. The inheritance of such a mutation is associated with a younger than average diagnosis of breast cancer (often, but not always below the age of 50, and sometimes as young as 30), so that a strong family history of young onset breast and ovarian cancer should alert the clinician to the possibility of a BRCA mutation. Note most clinical genetic services in the UK will have referral guidelines delineating the degree of family history and NICE has issued guidance about management of such families.