At a Glance
Why Get Tested?
When to Get Tested?
If a BRCA1/2 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
A blood sample taken from a vein in the arm
Test Preparation Needed?
The Test Sample
What is being tested?
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 are will have developed on the background of an inherited BRCA1/2 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 BRCA1/2 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.
How is the sample collected for testing?
The test for BCRA 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 BCRA 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.
NOTE: If undergoing medical tests makes you or someone you care for anxious, embarrassed, or even difficult to manage, you might consider reading one or more of the following articles: Coping with Test Pain, Discomfort, and Anxiety, Tips on Blood Testing, Tips to Help Children through Their Medical Tests, and Tips to Help the Elderly through Their Medical Tests.
Another article, Follow That Sample, provides a glimpse at the collection and processing of a blood sample and throat culture.
Is any test preparation needed to ensure the quality of the sample?
No test preparation is needed.
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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.