BRCA genes help fight off certain cancerous tumors, particularly those related to breast and ovarian cancers. If you’ve inherited mutations of these genes, you may have an increased risk of developing hereditary breast and ovarian cancer (HBOC) syndrome.
Testing for BRCA mutations can help catch related cancers early. Learn more about BRCA gene mutations and cancer risk factors.
BRCA genes are responsible for generating proteins to help suppress and repair damage to DNA. This is an important task because damaged DNA can increase your risk of developing certain cancers.
There are two types of BRCA genes:
- Breast Cancer Gene 1 (BRCA1)
- Breast Cancer Gene 2 (BRCA2)
Sometimes these genes may undergo mutations, which can suppress their ability to fight potential tumor development.
BRCA gene mutations
While the National Cancer Institute (NCI) estimates that BRCA gene mutations affect
If you do have a BRCA gene mutation, your risk for certain cancers — especially breast and ovarian cancers — may be greater. However, these mutations may also increase your chances of developing other types of cancer, too.
The only way to know if you have a BRCA mutation is to undergo genetic testing. This step is especially important if you know one of your parents has this type of gene mutation.
BRCA gene mutations are primarily known for increasing the risk for hereditary breast cancer.
The NCI estimates that
Another risk to consider is contralateral breast cancer. This type of breast cancer affects the opposite breast from the site of the original cancer diagnosis. According to the NCI, this risk increases over time, with a
Women who have BRCA variants may also have an
While breast cancer is most common in women
Another notable risk associated with BRCA gene mutations include ovarian cancer. According to the American Cancer Society, while less than 2 percent of women develop ovarian cancer,
The NCI estimates that between 39 and 44 percent of women who have BCRA1 variants will develop this cancer and
Also, if you’ve already had breast cancer, you may have
BRCA gene mutations are primarily associated with breast and ovarian cancers in women. However, gene variants may increase the risk of other cancers, too.
- breast cancers in men
- prostate cancer
- fallopian tube cancer
- primary peritoneal cancer in women, which sometimes spreads to the ovaries
- pancreatic cancer
- acute myeloid leukemia in children
You may consider genetic testing for BRCA variants if you have a personal or family history of certain cancers. This is especially applicable in the case of breast and ovarian cancers.
Even if you already have a cancer diagnosis, genetic testing can help your oncologist determine the right course of treatment.
Your doctor will also likely recommend testing if one of your parents has a known BRCA1 or BRCA2 mutation. Genetic testing for these two variants may be conducted after the
Testing for BRCA gene mutations may be done in a lab via a blood or saliva sample. While at-home genetic testing is also available, it’s important to find options that
Keep in mind that there’s a risk for false-negative results. This means that the particular test didn’t detect the BCRA gene mutations despite their presence in your body.
A positive test result means you have a “likely pathogenic” or “pathogenic” variant. While you may be at an increased risk of certain cancers, having a BRCA mutation doesn’t automatically mean you’ll get cancer.
Still, having a positive test result can be a powerful tool in helping to mitigate or catch cancer early. For example, your doctor may recommend early screenings.
Some people also choose to have more aggressive treatments to prevent cancer. Examples include preventive mastectomies, chemopreventive drugs, or ovarian/fallopian tube removal.
If you already have a cancer diagnosis and obtain a positive BRCA mutation test result, this can determine the right course of treatment. Poly-ADP ribose polymerase (PARP) inhibitors may be especially helpful. These cancer drugs encourage DNA repair in the presence of BRCA variants.
Finally, if you test negative, your doctor may still want to keep a watchful eye if you have a family history of risk factors for cancer. This may include follow-up genetic testing in the case of false-negative results.