Breast Cancer Basics: Risk Factors and Genetics

Dr Brian Lawenda discusses the epidemiology of breast cancer, risk factors and genetics.

Everyone with a Breast Cancer History Should Get Testing

If you have a personal history of breast cancer, you might want to consider getting tested for BRCA1, BRCA2 or PALB2 (and other hereditary cancer mutations), regardless of your family history or age. Recent studies indicate that standard genetic testing guidelines criteria (such as NCCN) are inadequate and miss 50% of patients carrying these and other high-risk mutations.

A 2020 study reported that breast cancer patients who are older than 50, regardless of family history or other risk factors, have risk of 1 in 28 (3.5%) of having an inherited breast cancer-related gene mutation.

This is why I follow the American Society for Breast Surgeons recommendation “Consensus Guideline on Genetic Testing for Hereditary Breast Cancer” to offer genetic counseling and testing to ALL patients with a history of breast cancer. Genetic testing should include BRCA1/BRCA2 and PALB2.

Who Else Should Get Testing?

Knowledge is power…this is why I think EVERYONE should have the ability to discover if they carry a mutation that increases their risk for developing cancer.

Take this 1-minute screening questionnaire to determine if you might be a candidate for genetic testing.

Genetic Testing Has Limitations and Emotional Implications

  • Depression, anxiety, or guilt. A positive test result means a gene mutation exists. This result may bring difficult emotions. Some people may think of themselves as sick, even if they never develop cancer. Negative test results may also cause difficult emotions. For example, some people may experience guilt if they do not have a gene mutation that other family members have.
  • Family tension. People are generally encouraged to tell family members about test results because they can be important for the health of family members. But this information could also complicate family dynamics.
  • A false sense of security. A negative result means a specific genetic mutation is not present. But people with negative results may still develop cancer. A negative result only means the person’s risk is average. Each person’s risk for cancer is also affected by other factors. For example, lifestyle, environmental exposure, and medical history.
  • Unclear results. A gene may have a mutation not linked with cancer risk. This is called a variant of unknown significance. It means that it is unclear whether the mutation will increase risk. Or people may have mutations that current tests cannot find. Many cancers are not yet tied to specific gene mutations. Also, some genes may interact unpredictably with other genes or environmental factors. And these interactions may cause cancer. So it may be impossible to calculate the cancer risk.
  • High cost. Genetic testing can be expensive. It is particularly expensive if health insurance does not pay for it.
  • Discrimination and privacy concerns. Some people fear genetic discrimination from test results. Others worry about the privacy of their genetic information. The Genetic Information Nondiscrimination Act (GINA) protects against employment and health insurance discrimination. Discuss related concerns with a genetic counselor or doctor.

Learn About Genetic Counseling

National Cancer Institute

How To Find A Genetic Counselor (National Society of Genetic Counselors)

Dr. Lawenda’s Favorite Hereditary Cancer Genetic Tests

While there are many company’s offering multi-gene panel assays, Color Genomics (click here to order this through Dr. Lawenda’s IOE Program) offers a very high-quality product, free genetic counseling and low cost.

Other great companies offering multi-gene panel mutation assays: