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“You are BRCA2-Positive”: Studies that Have Helped Me

April 05, 2022

“You are BRCA2-Positive”: Studies that Have Helped Me

by Mary Ellen Dreher

Research and scientific studies are so important. My story shows how two such studies helped determine my course of action.

The Study that Guided Me Toward Testing

“We invite you to participate in the Tapestry study, whose goal it is to understand how patient care may be impacted when results from DNA sequencing of 11 genes for hereditary cancer are in the medical record,” stated the message in my e-mail.

Hmmmm…my attention was captured. Should I consider a genetic study or is this a bad idea? I did have ovarian cancer when I was 38 years old but that was 25 years ago, and I have not had a recurrence or another cancer diagnosis. I have no family history of breast or ovarian cancer, and I am pretty sure I don’t have any genetic mutations for cancer. But I do have a daughter who has become concerned about her risk of ovarian cancer. If all this testing were to come back negative, it would provide her with peace of mind.

Nine months after signing up for the study I got the results. “You were found to have an actionable variant in the BRCA2 gene that is associated with a genetic condition called Hereditary Breast and Ovarian Cancer (HBOC). Individuals with HBOC have an increased risk for certain types of cancer, including breast, ovarian, prostate, and others.”

A numbness spread over me. I was then 63 years old and had lived 25 years without a cancer recurrence. I have no desire to make any “might be possible cancer” possibilities a focus of my life. But the question remains: Should I ignore what was maybe better unknown or try to pursue interventions to attempt to prevent what might happen? The first step I took was to be retested by another reputable company to make sure that my initial test result was accurate. This retest confirms the original finding of a “pathogenic variant (mutation) in the BRCA2 gene associated with Hereditary Breast and Ovarian Cancer syndrome.”

Decisions to be Made

According to the Mayo Clinic, BRCA2 is associated with higher lifetime risks for developing breast and ovarian cancers: a 45 to 83 percent risk of breast cancer by age 70 (the average risk for the general population is 12 percent) and a 27 percent risk of developing ovarian cancer by age 80 (the general population has a 1 to 2 percent risk). Compared to the general population, BRCA2 mutations are also associated with a higher risk of pancreatic cancers and melanoma.

If that isn’t depressing! My first reaction was to have a double mastectomy without reconstruction and get it over with. But after doing significant research on double mastectomies, I realized that they are not always benign surgeries. Many women have chronic pain afterward. Others have numbness and upper body muscle weakness. I am now a fairly healthy 64-year-old. I do not want a life where I am cancer-free yet debilitated and in constant pain.  

I then met with a doctor from the breast clinic at Mayo Clinic. We went through my options: 1) Do nothing (this is not encouraged), 2) Have a double mastectomy, 3) Take aromatase inhibitors to help prevent cancer, and/or 4) Monitor with alternating mammograms and breast MRIs every six months.

Taking aromatase inhibitors sounds interesting but it is mostly a “hit-and-miss-maybe” approach. No one knows if I will actually get the kind of cancer that is prevented by drugs that block estrogen production and uptake. I strongly discounted their use after I read about the possible side effects: hot flashes, night sweats, joint pain (among 50 percent of those taking it), muscle pain and bone loss.

The Study that Helped Me Decide

Before I left my appointment, I was offered the opportunity to join another study, “GENetic Risk Estimation of Breast Cancer Prior to decisions on preventative therapy uptake, risk reduction surgery, or intensive imaging surveillance.” The polygenic risk score will take into account genetic risk factors, known as single nucleotide polymorphisms (SNPs) for breast cancer. This score is the result of analyzing 30 or more genes that influence whether a person develops cancer and projects an individual’s chance of developing breast cancer. I wondered if this study could provide me with the information I needed to make a definitive choice about the direction I should choose.  

“I have good news.” These are the first words from the doctor’s mouth when I sit down with her later. “You are in the lowest seventh percentile on the polygenic risk scoring,” she says.

“Because you had a hysterectomy at age 38, you have just a 9 percent risk of developing breast cancer in the next five years, an 18 percent risk in 10 years, and a lifetime risk of 27 percent.” That figure is still high compared to the general population, but I now knew in which direction I should go. At least for now, I will alternate the mammogram and breast MRI every six months. If an abnormality shows up, I will opt immediately for a double mastectomy without reconstruction. Now that I have made this decision, I choose to live my life in freedom from fear, and God willing, to treasure each day for what it is.

Posted in: Research , Stories
Tags: BRCA , Ovarian Cancer , BRCA2 , Research Studies


June 1, 2022

Ilana D. says:
I'm glad you found a strategy that works for you! But I want to make sure that other women reading this post don't automatically rule out preventive mastectomies because of it. I am also a BRCA-2 carrier and had a preventive double mastectomy with no reconstruction 18 (!) years ago and have had NO pain, weakness, or negative side effects. I've been super-satisfied with my decision. I suspect that some of the reports of muscle loss come from mastectomies where lymph nodes also had to be removed. In a preventive surgery where there is no cancer, the lymph nodes can stay, which reduces some of the possible side effects.


August 1, 2022

Marie Blain says:
Thanks for sharing and knowing we can make our own choices. Letting people know that they need to educate themselves so they can make the right choices for themselves.


May 3, 2022

Marcia C Ward says:
I also learned I was BRCA2+ from the Tapestry Study at age 70. I had an appt with a genetic counselor and a gynecologist who recommended laparoscopic BSO which I had in February at Mayo. Unfortunately, Medicare is denying coverage for the office visits and is calling Physician Services for the surgery "Cosmetic Surgery". Mayo will not dispute this and is billing me $7600. You are fortunate your insurance provides coverage.


June 1, 2022

Genevieve Rohan says:
I am BRCA2 +, 68 years old. Had my RRBSO within 6 months of finding my genetic risk(Dec, 2021). MediCare covered the hospital, but not any of the physicians. Made me realize how prevention is not valued by our health system. I believe we did the right thing and our actions may change the system for others


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