BRCA1 Gene Analysis

What is BRCA1 gene analysis?

BRCA1 is a gene known as a tumor suppressor that helps repair damaged DNA in cells. When this gene carries a disease-causing (pathogenic) variant, DNA repair can be impaired and the risk of developing certain cancers, particularly breast and ovarian cancer, increases. These variants can be inherited from the mother or the father and concern men as well as women.

In BRCA1 gene analysis, all of the protein-coding regions of the gene are read in DNA extracted from blood, using methods such as next-generation sequencing. In this way, the test looks not just for a few common changes but for variants that may be found anywhere along the gene. Complementary methods such as MLPA may be needed for deletions or duplications covering large sections of the gene; the scope of the test is stated in the laboratory report. BRCA1 analysis is often ordered together with BRCA2.

When is BRCA1 gene analysis ordered?

BRCA1 analysis is performed on a doctor's recommendation and with genetic counseling when personal or family history suggests an inherited predisposition to cancer. In people diagnosed with cancer, the test can contribute to treatment and follow-up planning; in family members who have not been diagnosed, it also helps assess their risk.

• Breast cancer diagnosed at a young age
• Cancer in both breasts or more than one cancer in the same breast
• Triple-negative breast cancer
• A personal or family history of ovarian cancer
• Breast, ovarian, pancreatic or prostate cancer in more than one family member
• Male breast cancer in the family
• A BRCA1 variant found in a family member

The timing and scope of the test may also vary depending on whether the person has been diagnosed with cancer and on their treatment. If a variant has previously been found in the family, testing other family members for that variant alone may often be enough. For this reason, it is helpful to share any genetic reports of your relatives with your doctor before the test.

How do you prepare for BRCA1 gene analysis?

No fasting is needed for BRCA1 analysis, and your daily medications do not affect the result. Genetic counseling is recommended before the test; this consultation covers what the test can and cannot show, the possible results and what these results could mean for you and your family. Noting down the cancer diagnoses in your family, the ages at diagnosis and the degree of relationship in advance makes the assessment easier.

Genetic tests are performed with informed consent. If you have previously had a bone marrow or stem cell transplant, mention this; in that case a different type of sample may be needed, because the DNA obtained from blood may belong to the donor. Our nurse collects your blood sample at your home or workplace, and the sample is analyzed at an accredited laboratory.

How are BRCA1 gene analysis results interpreted?

The variants found are usually classified in the report as pathogenic, likely pathogenic, of uncertain significance, likely benign or benign. A pathogenic or likely pathogenic variant indicates an increased risk of hereditary cancer; however, it does not mean that the person will develop cancer. In this case, closer monitoring, risk-reducing options and testing of family members are planned together with your doctor and through genetic counseling.

A variant of uncertain significance is a change for which current knowledge cannot tell whether the risk is increased; it is not used on its own for treatment or surgical decisions and may be reclassified as knowledge grows. Not finding a variant, on the other hand, does not show that there is no cancer risk; risks associated with other genes and the family history are assessed separately. Your result should be interpreted together with a medical geneticist or the doctor who follows your care.