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Genetic Testing and Family History Help Determine Cancer Risk

Female doctor explaining something to female patient

Everyone is born with BRCA1 and BRCA2 genes which are tumor suppressor genes.

Women who have an error, called a mutation, in BRCA1 or BRCA2 have increased cancer risks, most notably up to a 75 percent lifetime risk of developing breast cancer and up to a 50 percent lifetime risk of developing ovarian cancer. Men who carry BRCA gene mutations also have increased cancer risks, including pancreatic, prostate and male breast cancer.

BRCA mutations can be inherited by male and female children and passed on to future generations. Women and men who are shown to carry BRCA gene mutations through genetic testing have options to reduce and manage their cancer risks.

According to the Basser Center for BRCA, "Knowing about the presence of increased risk for cancer can provide important, sometimes life-saving options such as increased cancer screening, preventive surgeries and medications."

Determining Your Risk: Know Your Family History

There are several factors in your family history that can be associated with an increased risk of a BRCA1 or BRCA2 mutation. The National Cancer Institute lists those factors as the following:

  • Breast cancer diagnosed before age 50
  • Cancer in both breasts
  • Breast and ovarian cancers in the same woman or family
  • Two or more primary types of BRCA1- or BRCA2-related cancers in one person
  • Male breast cancer
  • Ashkenazi Jewish ancestry

When family history suggests the presence of a BRCA1 or BRCA2 mutation, speak with your primary care physician or OB/GYN to ask about genetic counseling to examine your potential risks and whether genetic testing is appropriate for you—and potentially your family.

Getting Genetic Testing

Genetic testing involves the collection of DNA through a blood test or a saliva collection kit. DNA is isolated and studied for the presence or absence of inherited mutations in specific genes.

Benefits of genetic testing through an academic medical center such as Penn Medicine include a personalized cancer screening program that’s tailored to a person’s individual risk. Meeting with a genetics specialist can help to determine if your personal and/or family history meets the criteria for testing.

Genetic testing is not without limitations. Results of testing may cause anxiety or other emotional distress, is the full cost of testing is not covered by all insurance plans, and some mutations may not be detectable using current technology, so additional testing could be necessary in the future.

Deciding whether or not to have genetic testing is a personal decision, and learning about the presence of an inherited mutation that increases risk for cancer can affect other family members. Relatives could learn more about their cancer risk through testing a parent, brother, sister or cousin, and this information may or may not be welcome.

At Penn, we strongly encourage people to share genetic testing information with relatives; however, each family member will need to choose whether or not to be tested.

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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