BRCA 1 and 2 are genes that produce tumor-suppressing proteins. Tumor-suppressing proteins help repair your damaged DNA and ensure that your cells genetic materials remain stable. If these genes are mutated or altered (either the tumor-suppressing proteins are not made at all or not functioning correctly) damage to your DNA can’t be repaired properly. Your cells are then more likely to develop genetic alterations and cancer, and you have an increased risk of developing cancers of in your breast and ovaries. Specific inherited mutations in BRCA1 and BRCA2 are also associated with several additional types of cancer. BRCA1 and BRCA2 mutations account for 20-25% of hereditary breast cancers, 5-10% of all breast cancers, and 15% of all ovarian cancers. Cancers associated with mutations in BRCA 1 and 2 usually develop at a younger age than nonhereditary cancers.
About 12% of women in the general population will develop breast cancer at some point in their lives. About 1.3% of women in the general population will develop ovarian cancer sometime in their lives.
If you inherit a harmful mutation in your BRCA 1 and 2 genes your risk of developing breast or ovarian cancer is increased greatly. Between 55-65% of women who inherit a harmful mutation in BRCA 1 and around 45% of women who inherit a mutation in BRCA 2 are likely to develop breast cancer by age 70. About 38% of women that inherit a harmful BRCA1 mutation and 11-17% of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70.
Factors Contributing to Cancer Risk
- Family History: Depending on your family history, and the prevalence of breast cancer, ovarian cancer, and other types of cancer in your family members, your risk can be higher or lower.
- Inherited Mutation: The specific type of BRCA 1 or 2 mutation can be harmful or can have no effect on your risk.
- Reproductive History
However based on the data available none of these factors are as strong as the effect of carrying a harmful mutation in BRCA 1 or 2.
Cancers Linked to Gene Mutations in BRCA1 and BRCA2
Fallopian tube cancer and peritoneal cancer. Men with the mutations have a higher risk of breast cancer and prostate cancer. Pancreatic cancer and Fanconi anemia subtypes can also be caused by inherited mutations in BRCA 1 and 2 genes.
People of Ashkenazi Jewish descent have a higher prevalence of these harmful mutations. Norwegian, Dutch, and Icelandic peoples also experience the specific harmful mutations in BRCA 1 and 2 genes.
We don’t have much data on the variance of these genetic mutations among racial and ethnic groups in the United States, so we don’t have information about the spread of this in African American, Hispanic, and non-Hispanic white populations.
Testing For BRCA1 and BRCA2
DNA testing involves collecting a sample of your blood, saliva, or both, and sending it to a laboratory for examination and analysis. The pathologists at the lab will check for a known mutation in one of your genes (prevalent in your family members), or for all possible mutations in both genes.
Because these harmful mutations are so rare in the general population, most experts agree that you should only get tested if your family history suggests the possibility of a harmful mutation being present. If you have family members with cancers of the breast, ovaries, fallopian tubes, or peritoneal cancer you should have a physician evaluate your family history to see if you should get tested.
A positive test result indicated that you have inherited a known mutation and have an increased risk of developing certain cancers. However, your test results can’t tell you if you will develop cancer. It is possible that you can never develop cancer even if you have an inherited mutation.
Testing Positive For BRCA1 and BRCA2
Several options are available to you when you are dealing with a positive test result:
- Enhanced Screening: Getting screened for cancer with clinical breast examinations more frequently is recommended if you have a harmful gene mutation. Scientists recommend getting a mammogram at least once a year.
- Prophylactic Surgery: This type of procedure removes as much of your “at-risk” tissues as possible. Surgery to remove breasts, ovaries, fallopian tubes can help your risk of cancer.
- Chemoprevention: Using drugs, vitamins, or other agent to delay your risk of cancer coming or recurring in your body.
Cancer may be scary, but the advent of genetic testing can help you prepare for what comes of it.
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