Breast Cancer Genes 101: How to Manage BRCA1/2 Mutations

In the words of breast cancer patients and survivors themselves, “It’s difficult to stay positive during such an intense time,” and “some days, you just want to crawl into a hole and stay in bed.” Breast cancer is two words put together, but having the disease itself can take a massive toll on your physical and emotional health. The good news is, you may reduce your breast cancer risk by understanding your genes and taking action.

An Introduction to Genes and Genetics

According to BreastCancer.Org, about 5 to 10 percent of breast cancer cases are hereditary or genetic. Abnormal genes inherited from one or both parents is the cause.

What are genes, you ask? Genes are short segments of deoxyribonucleic acid (DNA) found in thread-like compositions called chromosomes. Your DNA consists of instructions for building proteins, and these proteins control the function and structure of each cell that makes up your body.

Your genes, in other terms, are instruction manuals for cell growth and function. Any changes or mistakes in your DNA are typographical errors. They may provide incorrect instructions, leading to impaired cell growth or function. Moreover, if your gene contains an error, that same mistake will appear in every cell with the same gene. This phenomenon mirrors an instruction manual, in which every copy has the same typographical error.

Types of DNA Changes

There are two types of DNA changes:

  • Germ-line alterations or mutations. A parent can pass down DNA changes to their child.
  • Somatic alterations. DNA changes can happen over time, often as a result of exposure to certain chemicals in the environment or the natural aging process.

While some DNA changes are harmless, others can cause diseases and other health problems called mutations.

BRCA1 and BRCA2 Genetic Mutations

Most inherited breast cancers are associated with mutations in two genes: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two). Everyone — male and female — has these genes. 

BreastCancer.Org noted that “The function of the BRCA genes is to repair cell damage and keep breast, ovarian, and other cells growing normally. But when these genes contain mutations that are passed from generation to generation, the genes do not function normally. And, breast, ovarian, and other cancer risk increases.”

However, having a BRCA1 or BRCA2 mutation does not mean a breast cancer diagnosis is in your present or future. Ongoing medical research is learning that different mutations in pieces of chromosomes (single nucleotide polymorphisms or SNPs) may have a link to increased breast cancer risk in women with a BRCA1 mutation, and also women who did not inherit a breast cancer gene mutation.

In most cases, women with breast cancer and have a BRCA1 or BRCA2 mutation have a family history of breast and ovarian cancers. Still, the vast majority of people with the disease did not inherit a breast cancer gene mutation and had no family history of malignant breast diseases.

How to Manage Breast Cancer Genes

If you have a BRCA1 or BRCA2 gene mutation, certain lifestyle choices can lower your breast cancer risk. Scientific studies concluded that these might benefit you:

Along with these lifestyle changes, there are several other options for women with abnormal genetics to minimize their risk of breast cancer. These include:

  • Scheduled screening for breast cancer
  • Intake of hormone therapy medications
  • Undergoing protective surgery

Allow us to elaborate on each bullet point below. 

If you have inherited DNA changes or somatic alterations, you and your doctor should develop a personalized screening plan for your situation. Typically, a screening plan for any woman at high risk may include:

  • Monthly breast self-examinations
  • Annual breast exams by a doctor
  • Digital yearly mammograms, starting at age 30 or younger
  • MRI scans every year, beginning at age 30 or younger

In addition, a breast ultrasound is another powerful imaging technique that can help detect breast cancer in women with either a BRCA1 or BRCA2 mutation. In this test, an oncologist activates a machine that “uses high-frequency sound waves to produce detailed images of the inside of the breasts. Unlike X-rays and CT scans, ultrasounds do not use radiation and are considered safe for pregnant women and breastfeeding mothers.” Remember, early detection is vital to improving your cancer survival rate

Next, two selective estrogen receptor modulators (SERMs) and two aromatase inhibitors — both of which are hormone therapy drugs — may lower the risk of developing hormone-receptor-positive breast cancer. However, hormonal therapy medicines do not decrease the risk of hormone-receptor-negative breast cancer.

Speak with your doctor about creating a specialized program for early detection, as well as medication for prevention that:

  • Addresses your breast cancer risk
  • Satisfies your individual needs
  • Gives you peace of mind

What About Protective Surgery?

In 2013, American actress Angelina Jolie shocked the world when she had voluntarily removed her breasts due to BRCA1 mutation. Her choice reduced her risk of not only breast cancer but also ovarian cancer. 

Prophylactic surgery (“prophylactic” means “protective”) is the removal of healthy breasts and ovaries. Also called protective surgery, it is a very aggressive, irreversible risk-reduction option that a few women with BRCA1 or BRCA2 gene mutations choose.

Prophylactic breast surgery may lessen a woman’s risk of developing breast cancer by an outstanding 97 percent. The procedure involves removing almost all of the breast tissue, leaving very few breast cells left that could develop into cancer. Women with an irregular BRCA1 or BRCA2 gene may also reduce their breast cancer risk by approximately 50 percent by undergoing prophylactic ovary and fallopian tube removal before menopause.

It is crucial to understand that no procedure — not even removing healthy breasts and ovaries at a young age — can completely eradicate the risk of cancer occurrence. There is still a small chance for cancer to develop. Therefore, regular check-ups and follow-ups are still necessary after prophylactic surgery. 

The Bottom Line

Although pursuing a healthy lifestyle and screening for breast cancer are non-negotiable, consuming hormonal therapy drugs and undergoing prophylactic surgeries are. Both require patience and long discussions with your genetic counselor, doctor, oncologist, and family over time — together with an immense amount of strength and courage. Take your time when considering these options and make careful decisions that feel comfortable to you.

New Hope Unlimited is a reputable provider of the most comprehensive treatment of immune disorders and chronic degenerative diseases. For harmless alternatives to breast cancer treatment, dial 480-757-6573 to contact us and schedule your consultation.

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