Hereditary Breast and Ovarian Cancer Syndrome: Explained
04.12.2023
Written by Anna Sanniti
Reviewed by Wendi Gill, CGC
Everyone has two copies of the BRCA genes, but whether you inherit certain variants or mutations in these genes can influence your risk of developing certain cancers.
In this article, we will answer some commonly asked questions:
What are the BRCA genes, and what conditions are they linked to?
What does it mean if variants in these genes are found?
Why is it helpful to understand if you have variants in these genes?
What does it mean if you don’t have any detected variants?
What are the BRCA genes, and what conditions are they linked to?
You likely may have already heard about the BRCA genes. Genetic variants found in BRCA1 and BRCA2 can affect both women and men by increasing their risk of developing breast cancer compared with the general population. Women also have an increased risk of ovarian cancer. There is also an increased risk for other types of cancer.
What does it mean if variants in these genes are found?
If a person inherits one disease-causing BRCA1 or BRCA2 variant, that person has Hereditary Breast and Ovarian Cancer Syndrome.
You and your family members are more likely to have a BRCA1 or BRCA2 genetic variant if your family has a strong history of breast, ovarian, prostate, or pancreatic cancer at a younger age than expected. [1] People with Ashkenazi Jewish ancestry are also more likely to carry a BRCA1 or BRCA2 variant. [2]
Even if you never develop cancer in your lifetime, you still have a syndrome and a 50% chance of passing this condition on to your children.
Why is it helpful to understand if you have variants in these genes?
If you are identified to have a disease-causing variant in a gene, you should speak with your healthcare provider or genetic counselor for help as soon as possible.
Testing can be a powerful tool to help you and your provider understand your position. You can use this to work with your doctor and counselor to understand your risk together with other risk factors such as age, family history, and lifestyle factors.
Plans may include:
More frequent cancer screening.
Positive diet and lifestyle changes, such as stopping smoking and increasing exercise.
Surgery
Using specific drugs that may reduce your risk.
A positive result is also very important for your entire family, as some of your family members may be also carriers. Your family members may decide to carry out testing to understand their risk. It is important to let your family members know your results so that they can talk to their doctors and make plans. With LetsGetChecked’s family cascade testing service, your family members can also take myGeneticScreen to help determine their risk.
What does it mean if you don’t have any detected variants?
If you don’t have any detected BRCA1 or BRCA2 mutations, then you most likely do not have Hereditary Breast and Ovarian Cancer Syndrome.
This test was optimized for use in people who do not have a significant personal or family history of Hereditary Breast and Ovarian Cancer Syndrome (“average risk”).
If you are “average risk”, your risk of developing hereditary breast and ovarian cancer is likely to be similar to the general population – 13% for breast cancer in women, 1% for breast cancer in men, and 1% for ovarian cancer in women.
To avoid false negative results, individuals with a significant personal or family history of HBOC (“high risk”) should work with their care provider to obtain appropriate genetic testing.
Genetic variants in the BRCA genes are just one factor that can increase the risk of cancer. There are many other factors including:
Family history
Age
Diet
Lifestyle factors such as smoking and lack of exercise
Women and men should continue to look for any changes in their breasts and general health, and attend appointments as recommended.
Please share your test results with your healthcare provider. They will be able to provide guidance based on your situation.
Let’s recap
Genetic variants found in BRCA1 and BRCA2 can increase the risk of developing breast cancer in both women and men, compared with the general population.
There is also an increased risk for several other types of cancer, such as ovarian cancer, prostate cancer, pancreatic cancer, and melanoma.
If you have a positive result for a BRCA variant, together with your healthcare provider and genetic counselor, you can create the best medical management plan that incorporates screening and/or preventative measures.
Genetic testing can be a powerful tool to better understand your risk, together with other risk factors such as age, family history, and lifestyle factors.
Any results that you receive are also very important for your entire family, and may also impact their healthcare. With LetsGetChecked’s family cascade testing service, your family members can also take myGeneticScreen to help determine their risk.
Even with a negative result, both women and men should continue to monitor for any changes in their breasts and general health, and attend screening appointments as recommended by their healthcare provider.
We encourage you to share all results with your healthcare providers. They can provide guidance based on your individual situation. Let them know if you have any concerns or questions. Understanding your genetic risk is empowering, but it can also be emotional for you and your family members. This is why we offer genetic counseling before and after you test. Genetic counselors help patients understand complex genetic information while supporting them through their testing journey. Along with providing scientific information, genetic counselors also provide emotional support and resources.
References
1. CDC. The BRCA1 and BRCA2 genes. Online: cdc.gov 2. National Cancer Institute. BRCA gene mutations. Online: cancer.gov 3. BMC Cancer. Male BRCA mutation carriers: clinical characteristics and cancer spectrum. Online: bmccancer.biomedcentral.com 4. CDC. Strategies for managing risk. Online: cdc.gov