To Test or Not to Test? Real Women on Why They Chose Genetic Testing

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by Jen Uscher

Whether you’ve been diagnosed with breast cancer or are concerned about your risk, you might be thinking about finding out if you have an inherited genetic mutation linked to a higher risk of breast cancer. More people than ever before are choosing to get genetic testing. But it’s not always an easy decision.

Inherited gene mutations that raise the risk of breast cancer are actually relatively rare in the general population. Only about 5% to 10% of breast cancer cases are thought to be linked to a genetic mutation passed from parent to child.

Your doctor or genetic counselor may recommend that you get tested if you have a higher-than-average risk of carrying a mutation linked to breast cancer. Some of the factors that make you more likely to carry one of these mutations include having family members who have had breast and/or ovarian cancer, being of Ashkenazi Jewish descent, or being diagnosed with breast cancer before age 50.

The most common and well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1, BRCA2, and PALB2. Your doctor or genetic counselor may order tests for BRCA1, BRCA2, and PALB2 mutations and/or for less common abnormal genes such as ATM, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, PMS2, PTEN, RAD50, RAD51C, SEC23B, STK11, or TP53.

Many people who undergo genetic testing find it to be helpful or even empowering.

If you test positive for certain gene mutations and have never had breast cancer, you can take steps to reduce your risk. For example, you may opt to have protective surgery or make lifestyle choices such as exercising regularly and eating a diet that is low in processed foods and sugars.

If you test positive and develop breast cancer, your doctor will work with you to figure out how the gene mutation might affect your treatment decisions and how to reduce the risk of a new, second breast cancer or ovarian cancer.

Genetic testing also has drawbacks. For some people, an abnormal test result can trigger anxiety, depression, or anger. You might worry about your children or other relatives who also may have inherited the mutation. And it’s not unusual to feel some confusion about what to do and who to tell about your test results.

Here, members of Breastcancer.org’s community share why they got genetic testing and how the results have affected their lives and treatment choices:

Testing Negative After a Breast Cancer Diagnosis

"When I was 64 years old, my annual mammogram revealed an anomaly, which when biopsied led to a diagnosis of invasive ductal carcinoma (IDC). After my lumpectomy, both my surgeon and medical oncologist recommended genetic testing based on my diagnosis (even though I was postmenopausal) and my ethnicity. I am Ashkenazi Jewish on both sides. There is absolutely no history of breast, gynecologic, pancreatic, or colon cancer on either side of my family, as far back as a century.

"I underwent a genetic counseling session, and the counselors concurred. My medical oncologist issued the necessary written authorization for the genetic testing. The results came back negative for the BRCA1 and BRCA2 mutations and any variants of unknown significance. Therefore, my treatment plan remains unchanged.

"Do I resent having had to go through all this worry for the two weeks it took to get my results? Not at all. Knowledge is power, either way it turns out."

- ChiSandy

Testing Positive for a BRCA2 Mutation After a Breast Cancer Diagnosis

"I was 43 when I was diagnosed with triple negative breast cancer, and my oncologist recommended genetic testing since I was on the young side. I tested positive for a BRCA2 mutation. If I had tested negative, I would have opted for radiation and enhanced screening. But since I am BRCA2+, I opted for no radiation and to have a prophylactic bilateral salpingo-oophorectomy (removal of both ovaries and both fallopian tubes) as well as a skin-sparing double mastectomy with immediate reconstruction. This prophylactic surgery decision was easy for me as I already had all my kids and as I am now in menopause there is no chance of having any more kids.

"The genetic testing part has actually been the hardest part of my breast cancer journey -- as I have three kids, two of them girls, and each of them has a 50 percent chance of inheriting this gene mutation. It kind of kills me a little when I think about it too much. But just because a person may be positive does not mean that they will get cancer, just an increased risk (a mantra I tell myself, it sorta helps). Also, knowing that I have a gene mutation has helped me steer my treatment to hopefully prevent a future cancer from forming.

"My advice to others is to really sit down and talk to a genetic counselor before getting the testing. They will explain what the findings can mean and can really prepare you for whatever comes up. I had an excellent genetic counselor who took the time to explain in detail how the DNA thing works before I went through the testing, and to remind me that testing positive for BRCA1 or BRCA2 is not a death sentence."

- omt

Testing Positive for a CHEK2 Mutation After a Breast Cancer Diagnosis

"I was diagnosed with invasive ductal carcinoma (IDC). I received genetic testing due to age and family history, and I tested positive for a CHEK2 mutation. A nurse told me over the phone that I have a 50/50 chance of developing a cancer in my other breast. That's it. It will be four months until I can get an appointment with a genetic counselor, and I don't know if insurance will cover it. My docs know little about the mutation, and neither does anyone else, as far as I can tell. It doesn't change my treatment plan, and since I have cancer, I was already going to be in a high risk screening group.

"This has felt like the most useless and least responsible part of my breast cancer experience so far. If so little is known about these rare mutations, why are you telling me about them? The testing company seems to be exaggerating the risk and I don't know why. My CHEK2 support group is full of people getting prophylactic bilateral mastectomies. That's a huge surgery. Is there really just cause for it? It all feels very reckless to me, though I know for others it offers peace of mind. This is just my experience."

- Okkate75

Choosing Preventive Surgery After Testing Positive for a BRCA2 Mutation

"My grandmother died of ovarian cancer at age 48. My mother was diagnosed with ductal carcinoma in situ (DCIS) at age 62. Sometime after that, she tested positive for a BRCA2 mutation. At age 79, she was diagnosed with invasive lobular carcinoma (ILC), stage III. That seemed like a lot of cancer in a small number of people. I decided to get genetic testing because I wanted to know if cancer was stalking me.

"I tested positive for a BRCA2 mutation. I also have a variant of unknown significance in the gene STK11. I was told my risk for ovarian cancer is 40%-44% and my risk for breast cancer is 60%-87%. I didn't want to wait for cancer to get me. I had a prophylactic bilateral salpingo-oophorectomy and a prophylactic bilateral mastectomy with reconstruction.

"When I got my pathology report, I found out that everything removed was benign. However, there were many areas of hyperplasia (more cells than usual in the ducts and/or lobules) in both my breasts. I feel that I had surgery before my breasts had a chance to turn cancerous.

"My advice to others? Ask, ask, ask! Ask for genetic counseling and ask if genetic testing is needed. If you are positive, ask for treatment recommendations. Testing positive for a genetic mutation is not a death sentence but an opportunity. You have options: increased surveillance, chemoprevention, and surgery. You can be proactive and fight cancer before it even starts."

- Mominator

Read more stories about genetic testing from members of Breastcancer.org’s community.

Explore Breastcancer.org’s Genetic Testing section and learn about the pros and cons of seeking your genetic information.

Watch videos about genetic testing and metastatic breast cancer and about choosing a prophylactic mastectomy after testing positive for a BRCA2 mutation.


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