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What's in Your Genes? The BRCA Mutation and How it Affects Your Cancer Risk

Pink DNA strands

October is Breast Cancer Awareness Month. It’s a chance to tell personal stories, share information about the diagnosis and spread the word about proactive preventative and screening measures.

For those with a family history of breast or ovarian cancer, one way to try to prevent these types of cancer is by getting tested for the BRCA gene mutation. 

What are the BRCA genes?

Everyone is born with BRCA1 and BRCA2 genes. These act as tumor suppressors, meaning that they help control or prevent cancer. When an error, or mutation, occurs in either of these genes, a person’s risk for developing cancer increases. If someone is identified as carrying a BRCA mutation, there is a 50% chance of passing down the mutation to their children.  

Most notably, BRCA gene mutations are linked to an increased risk of breast and ovarian cancers. Women who carry a BRCA1 or BRCA2 mutation can have up to a 75 percent lifetime risk of developing breast cancer and up to a 50 percent lifetime risk of developing ovarian cancer. 

BRCA mutations can also affect men. Male carriers have an increased risk of developing prostate cancer and male breast cancer. Both male and female carriers of a BRCA mutation are at an increased risk of developing pancreatic cancer and melanoma. 

There are other genes related to a hereditary risk of breast and ovarian cancer. When you meet with a health care provider to discuss genetic testing options, they can discuss other genes and different genetic testing options with you in more detail.

Should you get tested for a BRCA mutation? 

Consider meeting with a genetic counselor and getting tested if you or a family member has had:

  • Breast cancer at age 50 or younger
  • Triple negative breast cancer at age 60 or younger
  • Ovarian or fallopian tube cancer at any age
  • More than one breast cancer diagnosis
  • Male breast cancer
  • Breast, ovarian or pancreatic cancer and are of Ashkenazi Jewish ancestry. Learn more about the BFOR Clinical Study.
  • A known mutation in a cancer risk gene
  • Breast, ovarian, pancreatic or high grade prostate cancer diagnosed in multiple individuals on the same side of the family

Genetic Testing and Counseling at Penn Medicine

If you meet any of the above criteria, meeting with a genetic specialist may be the right move for you. Penn’s Program (CREP) offers genetic counseling and testing to help people determine their risk for breast cancer, ovarian cancer, and others. 

Meeting with a genetic specialist could help to:

  • Determine if genetic testing is appropriate for a family
  • Interpret genetic test results (mutations in different cancer genes have different risks)
  • Estimate cancer risks based on family history if no gene mutations can be identified

If a gene mutation is identified in a family, then family members can receive genetic testing to find out whether or not they have inherited the increased cancer risk.

Options for those with a BRCA1 or BRCA2 mutation

If genetic testing confirms that you indeed carry a BRCA1 or BRCA2 mutation, there are several options available to help prevent developing cancer. These include:

  • Starting screening for breast cancer at age 25
  • Receiving specialized breast screening that includes regular mammography and breast MRI
  • Participating in screening studies that offer cutting-edge technologies 
  • Discussion of screening for ovarian cancer
  • Choosing to have ovaries or healthy breast tissue removed to reduce risk of developing cancer
  • Receiving personalized medical recommendations for overall health

When someone tests positive for a BRCA mutation, the decision on how to move forward is a very personal one. It’s important to explore all possible options and learn about all available resources. 

Penn’s Basser Center for BRCA 

One valuable resource and leader in BRCA research is Penn’s Basser Center for BRCA. The Basser Center is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers. Basser’s advancing genetics research allows BRCA mutation carriers the possibility to live longer, healthier lives. 

Learn more about the Basser Center for BRCA >

Knowing Saves Lives

It is important to learn your family history of cancer so that you know if you are a candidate for genetic testing.  When talking to family members about cancer history, it can be helpful to know what types of cancer relatives had and what age they were when they were diagnosed.

The key to preventing or successfully treating BRCA-related cancers is detection of the gene mutation. The sooner you’re aware of your status as a carrier, the more options you have to prevent cancer development.  Raising awareness is currently the most effective way to save lives and provide options to those affected by a BRCA mutation. Celebrate Breast Cancer Awareness month by spreading the word about BRCA mutations and encouraging your loved ones to know their status. 

About This Blog

The Focus on Cancer blog discusses a variety of cancer-related topics, including treatment advances, research efforts and clinical trials, nutrition, support groups, survivorship and patient stories.

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