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Breast Cancer Genes 101: Who, How, and When to Get Tested
In 2024, it’s estimated that more than 300,000 women will receive a breast cancer diagnosis, and for some of them, their genes will have been a factor. October is Breast Cancer Awareness Month, an ideal time to reflect on breast cancer risk and prevention.
As the most common type of non-skin cancer affecting women, it’s crucial to know the factors that increase your chances of developing breast cancer.
Our team of skilled and compassionate providers at Georgia Obstetrics and Gynecology in Atlanta and Alpharetta, Georgia, want women to know that there are steps you can take to assess your risk so you can make informed decisions about your care to protect against breast cancer.
Which genes raise breast cancer risk?
Your genes carry vital information that tell proteins how to behave, and mutations in certain genes can significantly increase the risk of developing breast cancer.
BRCA 1 and BRCA 2
The ability to effectively repair damaged DNA plays a key role in preventing cancer development. The BRCA1 and BRCA2 genes are responsible for making proteins that repair damaged DNA in your breasts and ovaries. Mutations in these genes can lead to abnormal cell growth that can go on to become cancerous.
More than 60% of women with a harmful BRCA mutation will develop breast cancer. It’s important to know that patients with this mutation are also at an increased risk of:
- Melanoma (skin cancer)
- Ovarian cancer
- Pancreatic cancer
- Colon cancer
Your risk of having a harmful BRCA mutation may be elevated if you have close relatives with a history of ovarian cancer, multiple relatives with a history of breast cancer, or relatives who developed breast cancer before age 50.
PALB2
When it comes to genes linked to breast cancer risk, BRCA1 and BRCA2 are most commonly discussed. Testing for mutations in these two genes has been offered to patients with a history of breast cancer for a number of years.
However, research has found that women with a harmful mutation in the PALB2 gene are 35% more likely to develop breast cancer.
PALB2 is a gene that provides instructions for a BRCA2-interacting protein. This interaction is needed to repair DNA damage. When this protein is malfunctioning, DNA damage remains unaddressed, and cells become abnormal and can become cancerous.
Continued breast cancer research
Scientists have identified additional genetic mutations that may increase a person's risk of developing breast and ovarian cancer. This breakthrough paves the way for more accurate risk assessment and more individualized care.
Who should consider genetic testing?
Not everyone needs genetic testing for breast cancer. However, if you have a family history of breast cancer, especially if it occurred at a young age, testing may be something you want to consider. Women with close relatives who’ve had breast, ovarian, pancreatic, or prostate cancer, particularly if diagnosed before age 50, also should consider testing.
Additionally, if you have multiple family members across generations affected by breast cancer or have a known BRCA1 or BRCA2 mutation in the family, it’s wise to get tested.
When should you get tested?
Timing is crucial when considering genetic testing. If you have a family history of breast cancer, testing may be recommended as early as your 20s or 30s. If you're diagnosed with breast cancer, testing may be recommended immediately to help guide treatment decisions.
Early genetic testing can help inform decisions about surgical options, such as a prophylactic mastectomy, which has been shown to significantly reduce breast cancer risk in women with a BRCA1 or BRCA2 mutation.
Testing can be done at any point if your family history suggests a higher genetic risk.
Are you concerned about your risk?
Knowing your risks and taking action is key for early detection and breast cancer prevention. Advancements in early detection methods continue to increase the chances of survival. The 5-year survival rate of breast cancer is 99% when caught at its earliest before it spreads.
If you have a family history of breast cancer or are concerned about your risk, our team is here to help. If it’s been a while since your last mammogram, make an appointment to take advantage of our on-site Mammogram Center. Contact Georgia Obstetrics and Gynecology today to take charge of your breast health.
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