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Breast Cancer Awareness Month

Breast cancer is one of the most common cancers among females in the United States, second only to skin cancer. There will likely be over 287,000 new breast cancer cases this year (impacting about 1 in 8 females over their lifetime). Furthermore, it accounts for about one-third of all new cancer diagnoses annually. Breast cancer is also the second leading cause of cancer deaths in females residing in the United States, behind lung cancer. Indeed, it is estimated that over 43,000 people will die from breast cancer in 2022. While great strides have been made in the understanding, screening, and treatment of breast cancer, the work must continue to raise awareness in the public.

Risk factors for breast cancer include age, genetic status, reproductive history, family history of breast and ovarian cancer, and history of radiation therapy. Unfortunately, these risk factors are not under anyone’s control. However, risk factors that people have more influence over may include physical activity, use of hormone replacement therapy, first pregnancy after age 30, and alcohol intake. Nevertheless, genetic status may pose the greatest risk of breast cancer regardless of someone’s health or lifestyle habits.

Only 5-10% of cancer is due to an inherited genetic risk. Variants (genetic changes) in several genes may increase a person’s breast cancer risk tremendously. Genes provide our bodies with the instructions needed for growth and development. These variants are passed through the family for generations. People have likely heard of BRCA1 and BRCA2. Yet there are variants in other genes that increase breast cancer risk including ATM, BARD1, BLM, CDH1, CHEK2, and STK11, to name a few.

Since BRCA1 and BRCA2 genetic testing became available in the late 90s, testing has expanded to dozens of genes and cancer-specific gene panels from multiple labs. The purpose of hereditary genetic testing in BRCA1, BRCA2, and other genes is to determine if someone is high risk for breast cancer, although similar testing is available for other types of cancers. Usually, patients meet specific criteria to have hereditary genetic cancer testing performed. This may include a family history including multiple people being diagnosed at age < 50, family history of ovarian cancer, male breast cancer, or a known genetic variant in the family, among other risk factors. There are usually three types of results for hereditary genetic cancer testing:

  • Negative: no pathogenic variants were found in the gene(s) that were screened. This is good news. However, there may still be a residual risk for cancer, depending on a patient’s family history. But this is not as high compared to a positive result.
  • Positive: a likely pathogenic or pathogenic variant was found in the gene(s) that were screened. Patients are at an increased risk for cancer and should work with their physician to determine the best plan for high-risk screening, or breast cancer risk reducing surgery. Family members should be notified so they may consider testing as well.
  • Variant of uncertain significance (VUS): results are less clear. A variant in a gene was found, but the data is not obvious if it increases the risk for cancer. Patients should be managed based on their personal and family history of cancer, and not on the VUS result. Perhaps with time and more data, a VUS may be reclassified to benign or pathogenic. Patients should check in annually with their provider to find out if the VUS has been reclassified.

Typically, there are different screening recommendations for those who are average risk, and those who are high risk for breast cancer. For people in the average risk category, screening usually starts with mammograms and clinical breast exams in their 40s. For those with a 20% lifetime risk for breast cancer, screening begins at a younger age, and may also include breast MRIs. If there is family history of breast cancer, screening may begin 10 years before the youngest cancer diagnosis in the family. Furthermore, those who have a known variant may consider risk-reducing surgeries. There are many medical societies with published guidelines for breast cancer screening, and it is important people consult their physician to determine the best option.

While the statistics mentioned in this article may be intimidating, people can take control of their healthcare by being screened for breast cancer. Those with a family history of breast and ovarian cancer may want to consider genetic testing. October is Breast Cancer Awareness Month and there are many local and national events to raise breast cancer awareness by organizations such as American Cancer Society,, Breast Cancer Research Foundation, National Breast Cancer Foundation, and others. Patients, healthcare providers, and laboratories can work together to shine a light on breast cancer with the intent of saving lives.  

How careviso Can Help

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