How genetics affect your chances of being diagnosed with breast cancer

Breast cancer risk is influenced by a variety of different factors: age, reproductive history, general health. But genetics also play an important role.

About 5-10% of breast cancers and 10-15% of ovarian cancers are hereditary, according to the Centers for Disease Control and Prevention. This means that cancer may run in your family and is likely caused by a genetic mutation you inherited from one of your parents.

Properly functioning BRCA1 and BRCA2 genes protect you from breast and ovarian cancer. If these genes are mutated, they can pose a huge lifetime risk of developing breast and ovarian cancer.

What it means to be a BRCA1 or BRCA2 carrier

From 1 out of 500 women in the United States has a mutation in their BRCA1 or BRCA2 gene, according to the CDC. Not everyone with this genetic mutation will develop cancer, but it puts you at a much higher risk.

For the general population, 1 in 8 women – or 12% – will develop breast cancer in their lifetime. If you have the gene mutation, your risk increases significantly: Your lifetime risk of breast cancer ranges from 45 to 85 percent risk, and ovarian cancer 10 to 46 percent risk.

Those at higher risk of having the mutation include:

  • Individuals of Ashkenazi Jewish heritage.
  • Individuals who have a male relative with breast cancer.
  • Individuals who have a relative diagnosed with breast cancer before the age of 50.
  • Individuals who have a relative with bilateral breast cancer (cancer in both breasts) or breast cancer and ovarian cancer.

The difference between BRCA1 and BRCA2

While both genes perform similar functions, there are key differences.

BRCA1 gene

BRCA2 gene

  • Located on chromosome 17.
  • Associated with triple negative breast cancer, the most aggressive breast cancers.
  • Associated with ovarian cancer.
  • Located on chromosome 13
  • Associated with more cancers, including prostate cancer, pancreatic cancer and melanoma.

Ovarian cancer is often detected at a later stage because current screening methods for it are not very effective. This is a concern for people with the BRCA1 gene mutation, as the technology to detect ovarian cancer is not as advanced as it is for breast cancer.

What happens after learning that you are a BRCA carrier

Finding out that you have tested positive for the BRCA gene mutation can be overwhelming. But there are options available, including increased screenings — intended to detect and treat breast cancer early — drugs and surgery, a prophylactic mastectomy or prophylactic hysterectomy.

Your doctor will look at two things: your age and whether you’ve stopped having children.

Some people want to hold off major surgeries if they want kids. In those cases, it is recommended to increase screenings i.e. a mammogram and an MRI every year followed by a clinical breast exam. We follow you in hopes of finding cancer when it’s smaller, that it’s more easily treatable.

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The drug Tamoxifen blocks estrogen and can help prevent some types of breast cancer from developing in women. But it can cause problems for women trying to get pregnant, and it can’t treat triple-negative breast cancer, which can develop in patients with BRCA1.

A prophylactic mastectomy is the most aggressive of the options, but it also reduces the risk of developing breast cancer by 97 percent.

Women in their 40s and 50s are more likely to opt for prophylactic mastectomy. It is the safest thing and many have stopped having children.

Whatever you choose, your provider will help walk you through your options and come up with a plan.

Remember: knowledge is power. We can protect you better when we know.

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