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Mytien Goldberg, MD, FACS

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Commonly Asked Questions Regarding BRCA1, BRCA2, CHEK2 and Their Relationship to Cancer.

Posted May 17, 2017 in Breast Cancer

Many of us are familiar with Angelina Jolie, but you may be unfamiliar with her familial and genetic mutations. Angelina Jolie has a BRCA1 gene mutation and this mutation in her DNA puts her at a higher risk of developing breast or ovarian cancer. Jolie lost her mother, grandmother and aunt to cancer and in an attempt to prevent the same fate for herself she chose to have a prophylactic double mastectomy, meaning she had both breasts removed even though she hadn’t been diagnosed with breast cancer. In addition she also had a hysterectomy, removal of her ovaries and fallopian tubes. While the BRCA1 mutation may be the most known mutation due to Jolie’s openness about her journey there are many other mutations that should be discussed such as the BRCA2 and CHEK2 mutation.

What is BRCA1, BRCA2 and CHEK2?

BRCA1, BRCA2 and CHEK2 are all genes that produce proteins that repair damaged DNA that may cause uncontrolled division of cells. For this reason they are often called tumor-suppressor genes because they prevent cells from growing and dividing by regulating the cell cycle. When there is a mutation in these genes, there may be irregularities in the cell cycle that lead to abnormal cell growth, leading to tumors.

What type of cancers does BRCA 1, BRCA 2 and CHEK2 mutations put you in risk of?


  • Breast cancer, including an aggressive form called Triple Negative Breast Cancer
  • Ovarian cancer
  • Pancreatic cancer
  • Prostate cancer


  • Breast cancer
  • Ovarian cancer
  • Melanoma
  • Pancreatic cancer
  • Prostate cancer


How are you tested for one of these mutations?

Testing is done through a simple blood test or through a saliva test for those unable to provide a blood sample.

At what age can you begin getting tested for these mutations?

Typically individuals are tested beginning at the age of 25 for such mutations. *Genetic testing for BRCA1 or BRCA2 mutations is typically not recommended for children younger than 18 due to the psychological impact such news may have on them.

You tested positive for a BRCA1 or BRCA2 mutation, now what?

If you’re in your 20s you’ll most likely:

Have an annual breast MRI begins at age 25 or 10 years younger than the earliest age of breast cancer diagnosis in your family (if earlier).

If you’re in your 30s you’ll most likely:

Get a mammogram once a year in addition to a breast MRI. These two screenings should switch off every 6 months.

Regardless of age you will most likely visit a breast specialist and/or surgeon to discuss your preventative options such as cancer prevention surgery and hormone therapies.

The risk reducing options are:


  • Bilateral risk-reducing mastectomy – which consists of having both breasts removed to reduce the risk of breast cancer
  • If a patient opts to have a mastectomy there are breast reconstruction options to restore her breasts such as an implant based reconstruction or a flap reconstruction.
  • Bilateral risk-reducing salpingo-oophorectomy- which consists of having the ovaries and fallopian tubes removed to reduce the risk of ovarian cancer.


Taking medications (such as tamoxifen and raloxifene, and aromatase inhibitors) to lower the chance of developing breast or ovarian cancer. These medications work by blocking the estrogen receptors; however, there are side effects associated with these medications such as hot flashes and increased risk of blood clots

You tested positive for a CHEK2 mutation, now what?

Similarly to individuals with a BRCA1 or BRCA2 mutation, you will likely have cancer screenings more often than most people to find the cancer as early as possible. Some of these screenings are: MRI’s and mammograms of your breasts and colonoscopies because unlike BRCA1 and BRCA2, CHEK2 increases the risk of colon cancer.

Do any of these mutations affect your chances of having children?

There is no clear evidence that having a mutation in any of these genes affects fertility. However, as previously mentioned, removal of the ovaries and fallopian tubes can be used as a preventative measure to ovarian cancer, but this treatment also eliminates the ability of a woman to get pregnant naturally. Even with removal of the ovaries and fallopian tubes there are still methods for women to get pregnant through in vitro fertilization (IVF).

I have one of the gene mutations, but already have children, how does this affect them?

Because these mutations are inherited, there is a 50% chance that your children inherited a BRCA1, BRCA2 or CHEK2 gene mutation and will have to consider the information that has been presented earlier in this blog.

While at home genetic testing, such as 23andMe, Myriad and Color Genomics, has provided valuable insight into our health, we understand finding out you have a mutation placing you at risk of cancer is stressful and Goldberg Plastic Surgery is here to accompany you on your journey.

Dr. Goldberg is a breasts reconstructive plastic surgeon in Beverly Hills, California specializing in the DIEP flap and other state-of-the-art breast reconstruction procedures. Our office will work with different insurance plans and patients across and outside the US. Please call (310) 325-0310 to learn more and book a consultation.


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