Published on April 20, 2017

So I'm BRCA Positive. Now What?

By Erin Ash, MS, CGC, Coordinator, Cancer Genetics Program

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To schedule an appointment or for additional information, please contact our Cancer Genetics Program Coordinator, Erin Ash, MS, CGC, at 203.276.7693

Maybe this came after a diagnosis of breast cancer at a young age. Or a recent diagnosis of breast cancer in a relative prompted genetic testing, or BRCA testing, and now you as well have been found to carry the familial mutation, otherwise known as the BRCA gene. Perhaps there is an extensive family history of breast and ovarian cancer to consider. Or there is no family history of cancer, and you gave in to curiosity and did the “spit and send” version of genetic testing, and were faced with some very shocking information regarding your cancer risk!

Regardless, learning that you carry a BRCA gene mutation can be shocking. It can be surreal to look in the mirror and have this new knowledge of your genes that were set at the moment of your conception. So what can you do with this information?

DNA Chain: Genetic Counseling for BRCA Positive Gene

1. What is the risk of cancer when I’m BRCA positive?

Get In Touch

Many resources are available for young women with BRCA1 or BRCA2 mutations. Support organizations such as Bright Pink and FORCE provide valuable resources for women with an inherited risk for breast cancer. From questions regarding fertility preservation, preimplantation genetic diagnosis, and legal protections, these organizations are an amazing resource of information and support.

The Big Picture

Identification of a BRCA1 or BRCA2 mutation can be overwhelming. No matter what age you are identified, there are many choices for risk management throughout our life. Our options for cancer risk management continue to grow and improve.

First, it is important to clarify the type of gene identified. We tend to use the term “BRCA positive” to mean that a person carries a mutation in one of their BRCA1 or BRCA2 genes. There are several other genes, such as PTEN, P53, ATM, CHEK2, that also confer an increased risk for hereditary breast cancer. The risk for breast cancer is specific to the gene that has been identified.

In the general population, one in eight women will develop breast cancer by age 80. One study found that females with a BRCA1 mutation have up to a 65% risk of breast cancer to age 70. Women with BRCA2 mutations have a 45% risk of breast cancer by age 70. A second study found the lifetime risk for breast cancer in women with BRCA1 mutations was 64%, and for women with BRCA2 mutations a risk of 56%. An original study in 2003 estimated the risk of breast cancer in women with BRCA1 and BRCA2 mutations to be higher, up to 87%. However, larger studies since that publication have not supported that risk.

The risk for ovarian cancer is also increased for women with BRCA1 and BRCA2 mutations. The studies cited above give a risk range of 20-40% for women with BRCA1 mutations, and 10-27% for women with BRCA2 mutations. Mutations in BRCA1 and BRCA2 also increase the risk for male breast cancer, prostate cancer, and pancreatic cancer in some families.

2. What options do I have?

Throughout their life, men and women with BRCA1 and BRCA2 mutations can use this information to guide their medical care, and ensure that they are being proactive in cancer risk management. Women should work with their doctors to coordinate the care that is best for them based on their personal and family history. The National Comprehensive Cancer Network (NCCN) is a consortium of experts in management of hereditary cancer. The NCCN updates their guidelines for risk management for people with gene mutations based on current research. These guidelines are updated frequently

In Our 20s

Women who are identified with BRCA1 or BRCA2 mutations in their 20s should initiate annual screening MRI at 25, or 10 years younger than the earliest age of breast cancer diagnosis in their family. Annual screening mammogram is recommended for women over 30. A woman should have clinical breast exams performed twice per year.

Depending on family history and personal perspective of risk, some young women may elect for prophylactic risk-reducing bilateral mastectomy. The decision to undergo prophylactic surgery highly personal, and women may discuss this option with several breast specialists, such as a breast surgeon or plastic surgeon, to determine what surgical or reconstruction options are available.

To protect the ovaries, women with BRCA1 or BRCA2 mutations may consider taking oral contraceptives after age 20. Use of these medications reduces the lifetime risk of ovarian cancer by approximately 50% when taken for five years. It is a method of protecting fertility, while reducing future risk.

Begin healthy lifestyle habits! We cannot change our inherited mutations, but we can influence stressors that affect the body. Initiating and maintaining a healthy diet, regular exercise, smoking cessation, weight management and stress management in our 20s provides lifestyle tools to manage our health throughout our life. In some families, BRCA2 mutations are associated with an increased incidence of melanoma. Establishing sun safety practices early in our adulthood are critical to protect our skin.

In Our 30s

Women with BRCA1 and BRCA2 mutations should initiate annual screening mammograms in addition to annual MRI. These evaluations should be spaced 6 months apart, with clinical breast exams occurring twice per year. At this time thermography is not recommended as an effective method for breast cancer screening. Some women may consider risk-reducing bilateral mastectomy based on their personal or family history.

Fertility and family planning is a natural question for many women in their thirties, regardless of gene mutations. Women with BRCA1 and BRCA2 mutations may continue their oral contraceptives as desired based on fertility decisions. For women intending pregnancy, preimplantation genetic diagnosis may be considered to reduce the likelihood that offspring will inherit the BRCA1 or BRCA2 mutation found in the parent.

After completion of their family, women with a BRCA1 or BRCA2 mutation should consider timing of risk reducing surgery for ovarian cancer. Removal of the ovaries and fallopian tubes (bilateral salpingo-oophorectomy) is recommended for women with BRCA1 mutations between the ages of 35-40. For women with BRCA2 mutations the recommended age is between 40-45. Importantly, removal of the ovaries prior to menopause provides a risk reduction in breast cancer risk, as well as ovarian cancer risk.

Until recently, all ovarian cancers were believed to develop in the outer layer of the ovary. Current research suggests that many ovarian cancers begin in the fallopian tubes, and are deposited on the ovarian surface. In the future, removal of the fallopian tubes may be a way to reduce ovarian cancer risk without introducing menopause. However, at this time, removal of the fallopian tubes only is NOT recommended.

A recent study concluded that while the overall risk for uterine cancer is not increased in BRCA1 and BRCA2 mutation carriers, the incidence of a rare, more aggressive form of uterine cancer occurs more frequently in women with BRCA1 mutations. Women with BRCA1 and BRCA2 mutations should discuss this information with their gynecologic oncologist when determining the timing and type of risk reducing surgery.

In Our 40s and 50s

Women in their 40s with a BRCA1 or BRCA2 should initiate, or maintain annual screening mammogram and breast MRI screening as recommended by the NCCN. As discussed above, consideration of risk reducing surgeries for breast and ovarian cancer is an important decision.

For women who do not pursue bilateral risk reducing mastectomy, they may consider taking medications as a method of reducing their breast cancer risk. Medications such as tamoxifen, raloxifene, and exemestane may be considered, based on menopausal status, to reduce breast cancer by as much as 50%.

For men and women with a first degree relative with pancreatic cancer and a BRCA1 or BRCA2 mutation, they may consider enrollment in a clinical trial for pancreatic cancer screening. For all individuals, screening colonoscopy should be initiated by age 50, or by age 45 in persons of African American ancestry. People with a family history of colon cancer should discuss the appropriate timing and frequency of screening colonoscopy with their doctors.

At age 40, men with BRCA1 and BRCA2 mutations should begin annual prostate screening with their primary care physician. They should also begin monthly self-breast exams, and clinical breast exam once per year. A baseline mammogram may be considered for men who have enlargement of the breast tissue (gynecomastia).

And Beyond...

Is there an age to discontinue screening? This is a topic of significant debate in the general population. Cancer screening for common cancers such as breast, prostate, and colon should continue for healthy individuals who have a life expectancy of at least 10 years. Individuals who have other significant health issues, such as heart disease, may discuss the pros and cons of cancer screening based on their individual health concerns.

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