Breast Cancer and How Genetic Testing Can Help

Breast cancer is a type of cancer that grows in the breast tissue. After skin cancer, it is the second most commonly diagnosed. 1 in 8 women will develop breast cancer over the course of their lifetime. Although breast cancer is commonly witnessed in female patients, male patients can also be diagnosed with breast cancer. Over time, breast cancer gained more awareness. Research funding has allowed for better treatment of breast cancer.

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5 – 10 percent of breast cancers are inherited. The gene that increases the likelihood of breast cancer arising is a mutation in BRCA1 (Breast Cancer Gene 1). A mutation in BRCA2 is also linked to breast cancer. A gene test can be given to a patient to determine if they have one of these mutations in them.

BRCA1 & BRCA2: What are they?

BRCA1 and BRCA2 are known as tumor suppressor proteins. Their job is to repair damaged DNA and keep each cell’s genetic material stable. When mutations occur in one of these genes, problems arise. The genes do not function properly. Therefore, any damage that occurred to the DNA may not be repaired. This increases the likelihood that cancer transpires.

Inherited mutations in BRCA1 and BRCA2 are known to increase the risk of breast and ovarian cancer. They have also been associated with other types of cancer such as fallopian tube cancer, peritoneal cancer, prostate cancer, and pancreatic cancer and can also cause a rare form of Fanconi Anemia.

People who inherit the mutations in BRCA1 and BRCA2 are more likely to develop Breast and Ovarian cancer at a younger age than others.

Genetic Testing! Is it really that useful?

The gene test, in this case, is the BRCA gene test. This test is a blood test that uses a process called DNA analysis to identify any harmful changes in either of the BRCA’s. The test is offered after a questionnaire. The test is given if the patient has had a family history of breast cancer or ovarian cancer. It isn’t performed on people who don’t have a family history.

Pros of Gene Testing:

  • Can start preventive measures early
  • You might go to the doctor more frequently
  • You can consider surgical removal of breasts/ovaries before the cancer forms
  • If you do develop cancer, you and your doctor will have your genetic info to make any decisions
  • You and your family can make lifestyle changes if you test positive.

Cons of Gene Testing:

  • The results aren’t concrete. There can be an ambiguous result.

If you test positive:

  • You may face feelings of anxiety, sadness, or depression
  • You will have to make difficult decisions about preventive measures
  • Possible insurance discrimination

The plan after Genetic Testing

If you test negative:

You have a much lower risk of developing breast or ovarian cancer. All you have to do is do routine screening to make sure you don’t develop breast cancer.

If you test positive:

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Immediately talk to a genetic counselor!

Genetic Counselors can help you plan what to do next. Every person is unique and their situation is different. You can start to take medicine such as tamoxifen, Evista or Aromasin which can help reduce the risk of breast cancer. You can go to more screenings to make sure you catch it the first time. You can go ahead with the surgical removal of your breasts. Your genetic counselor will recommend options to you.

References:

Breast cancer. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/breast-cancer/symptoms-causes/syc-20352470. Published November 22, 2019. Accessed December 3, 2019.

BRCA gene test for breast and ovarian cancer risk. Mayo Clinic. https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815. Published September 12, 2019. Accessed December 3, 2019.

BRCA Mutations: Cancer Risk and Genetic Testing Fact Sheet. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#what-are-brca1-and-brca2. Accessed December 3, 2019.

Seeking Your Genetic Information: Pros and Cons. Breastcancer.org. https://www.breastcancer.org/symptoms/testing/genetic/pros_cons. Published October 12, 2016. Accessed December 3, 2019.