Breast Cancer Risk and Genetic Testing

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 genes encode proteins responsible for DNA repair in our bodies, akin to instruction manuals. Each individual inherits two copies of these genes, one from each parent. However, if these genes contain errors, referred to as harmful changes or mutations, it elevates the risk of developing specific cancers, notably breast and ovarian cancer, often occurring at a younger age.

These genetic errors can be inherited from either parent, and if one parent carries a mutation, there is a 50% likelihood that their child will inherit it as well. These mutations are present in all cells from birth. In some cases, even if one copy of the gene is normal and the other is mutated, the normal copy can change in certain cells over time. When this occurs, these altered cells can grow uncontrollably, potentially leading to the development of cancer.

What do BRCA1 and BRCA2 genetic test results mean?

BRCA1 and BRCA2 mutation testing can yield different results: a positive result, a negative result, or a variant of uncertain significance (VUS) result. A positive result indicates the presence of a known harmful variant in BRCA1 or BRCA2, raising the risk of certain cancers, but it cannot predict when or if cancer will develop. Negative results vary in meaning based on family history, and an uninformative negative result may arise when there is insufficient family history or undetected factors. VUS results indicate genetic changes not yet linked to cancer risk, and their implications may evolve with ongoing research. Genetic counseling is instrumental in understanding VUS results, and risk management should rely on family history and other factors until a VUS is reclassified as clearly harmful or not. Regular updates from testing providers may be necessary to stay informed about any changes in VUS interpretations.

How reduce risk of cancer if detected positive?

For women with these variants, options may include starting breast cancer screening at a younger age, more frequent screening, or using magnetic resonance imaging (MRI) in addition to mammography. However, there are no effective ovarian cancer screening methods.

Some individuals may opt for risk-reducing surgery, such as bilateral risk-reducing mastectomy to reduce the risk of breast cancer or bilateral risk-reducing salpingo-oophorectomy to reduce the risk of ovarian cancer. These surgeries have potential complications and are irreversible.

Medicines like tamoxifen and raloxifene can be used to lower the risk of breast cancer in women at increased risk, but their role in those with harmful BRCA1 or BRCA2 variants is not entirely clear. These drugs may have side effects like menopausal symptoms, blood clots, and increased cancer risk in some cases.

It’s important to note that while these measures can significantly reduce the risk of cancer, they do not guarantee prevention. Regular discussions with healthcare professionals and careful consideration of the benefits and potential harms of each option are essential for individuals with harmful BRCA1 or BRCA2 variants.

What are the benefits of genetic testing for BRCA1 and BRCA2 variants?

Dr.Prevents nurse is explaining medicine with the patient

When the Result is Negative:

Getting a negative result from genetic testing can make people feel relieved because it means they have a lower risk of getting a certain type of cancer. They can also be happy knowing they won’t pass this risk on to their children. Plus, they might not need extra medical tests or surgeries.

When the Result is Positive:

If the test shows a positive result, it means there’s a higher risk of cancer. But this information can be useful. It helps people make smart choices about their health. They can work with doctors to keep a close eye on things or take steps to lower their cancer risk.

In both cases, genetic testing gives important information that can help people make better decisions about their health.


A small blood sample is collected from the individual. This is typically done through a standard blood draw, similar to what you might experience during a routine medical checkup.

When you get a positive result for BRCA gene mutations, it means a higher risk of certain cancers like breast and ovarian cancer. The doctor may refer or suggest specialized cancer screenings or surgeries to reduce the risk, like removing breasts or ovaries. You’ll have regular check-ups, inform your family about the risk, and find emotional support. The goal is to lower the risk, but a positive result doesn’t guarantee cancer; it just means taking steps to stay healthy.

Genetic testing for BRCA mutations is typically recommended for individuals with a strong family history of breast or ovarian cancer, especially if multiple family members have had these cancers at a young age.

Yes, BRCA mutations can be passed to the next generation. If you have a known BRCA mutation, your children may consider genetic testing as adults or earlier if recommended by a genetic counselor, usually taking into account family history and mutation specifics

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