October is Breast Cancer Awareness Month. Generating more awareness, understanding, and prevention in this area is imperative because nearly one in eight American women will have breast cancer during their lifetime (Breastcancer.org1). In recent years, there has been more research on the topic of genetic breast cancer, its types, its risk factors, and treatment. Understanding genetic breast cancer can also help you understand personal risk and steps toward prevention.

Types

Mutations found on specific genes inherited from parents are the cause of genetic breast cancer. The American Cancer Society2 states, “In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.” The most commonly inherited mutations are in the BRCA1 or BRCA2 genes. Around 55-65% of women with a BRCA1 mutation and 45% of women with a BRCA2 mutation will develop breast cancer before 70 years old. Both mutations have a higher recurrence rate of cancer as well (National Breast Cancer Foundation – BRCA3).

Other specific mutations can cause genetic breast cancer. The third common mutation is PALB2, where around 35% of women with the mutation will develop breast cancer before 70 years old. While breast cancer in men is rare, a CHEK2 mutation can increase the likelihood of male breast cancer by ten times. Four other known gene mutations linked to breast cancer are CDH1, PTEN, STK11, and TP53, and a few others have possible links (National Breast Cancer Foundation – Genes4).

Reasons to Consider Genetic Testing

Deciding whether genetic testing is the right option begins with knowing your family history. If you are unsure of your family history, talk with your doctor to see if genetic testing would benefit you. The following are reasons to consider genetic testing for a gene mutation.

  • You have direct family members who developed breast cancer before 50 years old.
  • There is a history of breast and ovarian cancer on the same side of the family or in the same individual.
  • Someone in your family has been diagnosed with triple-negative breast cancer.
  • A male in your family has had breast cancer.
  • Someone in your family has a known breast cancer gene mutation.
  • You’ve decided with your doctor that genetic testing could be necessary.

(Breastcancer.org1)

Going through genetic testing can take a toll on mental health. Feelings of uncertainty or anxiety can increase. Consider meeting with a genetic counselor to discuss your risk and any pros and cons of completing testing.

Lifestyle Choices to Lower Risk

Prioritizing healthy lifestyle choices can make a significant impact on lowering risk. These lifestyle changes include managing weight, incorporating consistent physical activity, eating a nutritious and balanced diet, limiting alcohol intake, and not smoking or using tobacco products.

Other Risk-Reducing Options

In conjunction with healthy habits, there are a few more options that can further lower your risk of developing genetic breast cancer. Research has found several hormone therapy medications that can help reduce the risk for hormone-receptor-positive breast cancer. The medications differ based on whether you are pre or postmenopausal. Additional and more frequent screening might be necessary. These can include a rotation of mammograms, MRI scans, and ultrasounds. Finally, prophylactic surgery is also an option for risk reduction. A total mastectomy can reduce risk by 97% (Breastcancer.org1). Since these options have pros and cons, your focus should be on finding the best choice for you. If you’ve been diagnosed with a breast cancer gene mutation, talk with your doctor about developing an individualized plan of action that weighs the risks and benefits.

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