COMMONLY ASKED QUESTIONS REGARDING BRCA1, BRCA2, CHEK2 AND THEIR RELATIONSHIP TO CANCER.

Mytien Goldberg, MD, FACS • November 26, 2023

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COMMONLY ASKED QUESTIONS REGARDING BRCA1, BRCA2, CHEK2 AND THEIR RELATIONSHIP TO CANCER.

Mytien Goldberg, MD, FACS • November 26, 2023

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?


BRCA1:

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


BRCA2:

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


CHEK2:


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:


SURGICAL

  • 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.


NON-SURGICAL

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.

By Mytien Goldberg, MD, FACS March 7, 2025
Are you considering breast implant removal options but still want natural breast enhancement after implants? Do you wonder what your breasts will look like without implants? If so, you're not alone—and there are solutions to help you achieve a beautiful, natural shape. Embracing Your Body at Every Stage As we enter our 50s and 60s, we become more in tune with our bodies, appreciating the journeys they’ve carried us through—whether it’s childbirth, breastfeeding, or simply the ups and downs of life. Over time, some women find that breast implants no longer feel right. They may seem like a foreign material that no longer aligns with their bodies, prompting the decision to remove them and seek a more natural alternative. However, many women feel uncertain about breast explant surgery and how their breasts will look post-explant. Will they be saggy? Will they still have cleavage? These concerns are valid because, at any stage of life, we want to feel confident, empowered, and beautiful in our own skin. The good news? There are several breast implant removal options that allow women to maintain fullness and a natural shape using their own tissue. Your Options for Breast Implant Removal with Natural Fullness Option 1: Breast Implant Removal with Local Breast Tissue Rearrangement If you have a good amount of breast tissue with some skin laxity, this technique could be ideal for achieving natural breast enhancement after implants . The procedure involves removing the implants through a small incision in the breast fold. Dr. Goldberg then uses the lower breast tissue to enhance fullness and create natural cleavage. This method offers a soft, natural result without the need for artificial implants. Option 2: Breast Implant Removal with Lateral Chest Fat Transfer For women who do not have enough breast tissue for the first option, this approach utilizes excess fat from the sides of the chest to restore fullness after breast explant surgery with flap transfer (living fat tissue) . Many women in their 50s and 60s have loose tissue on the lateral side of the breasts. This excess fatty tissue is repositioned into the breast to restore volume and projection. The benefit of this technique is that the tissue is a living tissue which is different than fat transfer . It is simply a superior technique. The result? A fuller, natural-looking breast while simultaneously sculpting the sides for a sleeker contour—truly a win-win! Option 3: Breast Implant Removal with Abdominal Tissue Transfer (DIEP Flap Reconstruction) This is the ultimate solution for women seeking a full-body transformation while achieving breast reconstruction after implant removal . Dr. Goldberg removes excess lower abdominal tissue and repurposes it as living tissue to reconstruct the breasts. This technique provides long-lasting fullness while also improving abdominal contour—similar to a tummy tuck, but with the added benefit of breast reconstruction. It’s a fantastic option for women experiencing issues like Breast Implant Illness (BII), recurring capsular contracture, or those desiring a "natural" mommy makeover. Your Journey to Natural Confidence If you're ready to say goodbye to implants and hello to natural breast enhancement after implants , you're not limited to just one approach. With modern techniques like breast explant surgery with microsurgical flap transfer , you can achieve a youthful, confident look that aligns with your body’s natural beauty. Dr. Goldberg specializes in breast reconstruction after implant removal and natural enhancement techniques, helping women regain confidence and comfort in their bodies. 🔹 Ready to explore your options? Schedule a consultation today to discuss the best breast implant removal options for you!
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