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I Have a BRCA Mutation: What’s Next?

Jennifer is a writer and teacher. She was recently diagnosed with a BRCA 1 mutation, and hopes sharing her experience will help other women.

What to do when you're first diagnosed with a BRCA 1 or BRCA 2 genetic mutation.

What to do when you're first diagnosed with a BRCA 1 or BRCA 2 genetic mutation.

Understanding BRCA Mutations

What Are BRCA Mutations?

BRCA mutation are, quite simply, mutations of the BRCA genes. The BRCA1 and BRCA2 genes are tumor-suppressor genes. When working correctly, these genes repair DNA damage that could lead to cancers, including breast and ovarian cancer in women. Everyone has these genes. When there is a deleterious (harmful) mutation present, these genes can’t do their job, and you are left with a significantly increased risk of breast cancer and ovarian cancer throughout their lives, as the mutation prevents the body from fixing damaged DNA and suppressing tumors like it should. Basically, I am just like the X-Men, but my mutant power is the exact opposite of healing factor.

How Are BRCA Mutations Inherited?

BRCA mutations can be inherited from either parent. The BRCA1 gene is located on chromosome 17 and the BRCA2 gene is located on chromosome 13 (i.e. they have nothing to do with the sex chromosomes. If a medical professional tries to tell you that only your mother’s side of the family matters with regard to BRCA mutations or breast cancer risk, they probably shouldn’t be in the medical field. This is basic biology). If one parent has a BRCA mutation, each child (daughters or sons) has a 50% chance of also having the same mutation.

How to Get Tested

If you have a strong family history of breast cancer and/or ovarian cancer, or if one of your close relatives has a documented BRCA mutation, you can make an appointment with your primary care doctor to get a referral to a genetic counselor. The genetic counselor will then go over your family history with you and put in an order for the appropriate blood test if it is recommended for you.

Average risk of a woman with a BRCA 1 mutation getting cancer by a certain age.

Average risk of a woman with a BRCA 1 mutation getting cancer by a certain age.

I Have a Mutation, What Now?

After you get your BRCA test results back, you will be referred to a doctor that specializes in BRCA positive patients. Make your appointment for a consultation and exam. At this appointment, your doctor will discuss surveillance and possible preventative options with you. They will likely recommend that you have breast cancer screenings every six months. The exact recommendations your doctor makes for you may depend on the exact mutation you have, as well as your current age, whether you have already had cancer, and possibly other health factors.

I am supposed to have an MRI and mammogram alternating every six months (so one of each per year). Your doctor may also suggest you consider risk-reducing surgeries, including prophylactic mastectomy and prophylactic salpingo-oophorectomy (removal of fallopian tubes and ovaries). Some women choose to have surgery to virtually eliminate the risk of cancer, but this is an extremely personal decision. Many women choose to stick with regular screenings, rather than the preventative surgeries. I am sticking to surveillance and will discuss the oophorectomy with my doctor when I am closer to the appropriate age to consider that surgery (35-40). I will not be choosing the preventative mastectomy option.

BRCA mutations account for a significant number of breast and ovarian cancer diagnoses.

BRCA mutations account for a significant number of breast and ovarian cancer diagnoses.

Surveillance

The most important thing to do upon finding out you have a deleterious BRCA mutation is to keep up on regular screenings. Your chance of beating breast cancer is much, much higher if it is caught in the earliest stages. For high risk women, including those with BRCA 1 or BRCA 2 mutations, your doctor will likely recommend regular breast MRIs and mammograms (depending on your age). Unfortunately, there aren’t yet any reliable ways to screen for ovarian cancer.

Breast MRI

You will likely be instructed to start having an annual breast MRI earlier than mammograms. MRI can detect tumors in dense breast tissue more accurately than mammogram, so it is better for younger women. It also doesn’t use any radiation, unlike mammograms. A contrast dye is injected into your arm during this test. The machine is loud, and you have to stay super still, but it’s not the most unpleasant medical test you will every have to go through.

Mammograms

Mammography is better at detecting microcalcifications than MRI, so you will also need to have regular mammograms as well. For women with BRCA mutations, you will likely need to start having mammographs at age 30, about 10 years earlier than average-risk women.

Ovarian Cancer Screening

There isn’t a reliable method of screening for ovarian cancer. There is a blood test that can be used to screen for it, called the CA-125 blood test, but my doctor said that it doesn’t detect it early enough for the test to work (I may seek a second opinion on this). Currently, the best option for preventing ovarian cancer is apparently risk-reducing surgery. (I did see some information on an ultrasound to screen for ovarian cancer while researching this article. I will ask my doctor about that at my next appointment).

A mammography on left and a Magnetic resonance image (MRI) on right. Breast imaging technology has changed over the years. Note MRI's enhancement ability to confirm diagnosis.

A mammography on left and a Magnetic resonance image (MRI) on right. Breast imaging technology has changed over the years. Note MRI's enhancement ability to confirm diagnosis.

Preventative Surgeries

Prophylactic Mastectomy

Some women choose to have a prophylactic mastectomy upon learning that they are BRCA mutation positive. This means that your breast tissue is surgically removed to nearly eliminate the risk of developing breast cancer in the future. If your insurance allows you to have this surgery, they are also required to cover reconstruction procedures until you are completely satisfied with the results. Some women choose to forgo reconstruction after having the surgery as well. Discuss prophylactic mastectomy with your doctor to decide if it is right for you if you are BRCA positive.

Several years ago, BRCA 1 and 2 mutations were in the news headlines when Angelina Jolie found out that she had a BRCA1 mutation, and then decided to undergo a preventative mastectomy with reconstruction. Since this happened, many more women have been rushing to their doctors demanding to be tested for BRCA mutations, and those who tested positive may feel pressured to make the same medical choices as Angelina Jolie. Don’t feel like you have to make certain choices just because a celebrity did. What was right for a mega-rich celebrity might not necessarily be right for you, a regular person.

I have decided against going this route for prevention. For me personally, I feel like surveillance is a better option. In some online communities for BRCA positive women, there does seem to be a lot of pressure to do the preventative surgery, but it isn’t the right choice for everyone.

Prophylactic Salpingo-Oophorectomy

BRCA positive women are encouraged to consider having their fallopian tubes and ovaries removed upon completion of childbearing, or around ages 35-40. This is a much more important preventative surgery, as there are no reliable ways to detect ovarian cancer early enough right now.

There are considerable side effects to this, so you be sure to discuss it with your doctor before making any decisions. It will cause you to experience menopause symptoms much earlier than you naturally would if you decide to undergo this option to prevent ovarian cancer.

An illustration of how the BRCA genes may be inherited. Documenting your family medical history is important when seeking genetic counseling and testing.

An illustration of how the BRCA genes may be inherited. Documenting your family medical history is important when seeking genetic counseling and testing.

Reproductive Intervention Options

If a woman with a BRCA mutation does want to have children, childbearing must be completed prior to having an oophroectomy. There may be options to have eggs frozen for later use, however. (Whether having children naturally when you know there is a 50% chance of them having a BRCA mutation is another ethical quandary entirely.)

If you do want to have children after learning of your BRCA mutation, it is possible to do invitro-fertilization, and have the resulting embryos screened for the mutation before implantation. Only the embryos that are free from the genetic defect will be implanted, assuring you that your children won’t have your BRCA mutation.

If you have a BRCA mutation and wish to have children in the future, ask your doctor for more information about these options. I’m personally not interested in becoming pregnant and had already made that decision before discovering my BRCA mutation.

If you find out that you have BRCA mutation after you have already had children, you should make sure to educate your children about BRCA mutations and encourage them to get tested for it after they turn 18.

FORCE's National Hereditary Breast and Ovarian Cancer (HBOC) Week and National Previvor Day campaign.

FORCE's National Hereditary Breast and Ovarian Cancer (HBOC) Week and National Previvor Day campaign.

Helpful Organizations

Regular screening is important for early detection of breast cancer, especially for women who have a BRCA mutation.

Regular screening is important for early detection of breast cancer, especially for women who have a BRCA mutation.

There is Hope

Learning that you have a BRCA mutation is a terrifying experience. As scary as knowing that you have a high risk of developing cancer can be, it is much better to know so that you can take steps to catch it at earlier stages or potentially prevent it. It is important to work with your doctor to determine the best course of action for managing your breast and ovarian cancer risk if you have a BRCA 1 or BRCA 2 mutation. There are also a number of organizations and online resources that can help you to navigate all of the medical decisions you will be faced with and to connect with other women facing the same thing.

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2019 Jennifer Wilber

Comments

Kathy Burton from Florida on February 05, 2019:

Very informative and thought provoking article. Thanks for researching and sharing. Wish you all the best

Pamela Oglesby from Sunny Florida on February 04, 2019:

This is excellent informaton about the BRAC genes. I am more concerned about ovarian cancer for people as I think you can detect a lump in your breast more easily. I wrote an article about ovarian cancer after a friend of mine died from this disease, and the symtoms are not as easily recognized. Thanks for the excellent information.

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