Bethany Haller is a youthful 37-year-old mother of three. She is a successful photographer and a deacon at her church. She exercises and does yoga. She looks healthy. She feels healthy. So you can imagine her surprise when she learned that she has the BRCA1 genetic marker and an estimated 87% chance of getting breast cancer.

She knew she had a fierce family history of cancer on her paternal side. Her father died two years ago from pancreatic cancer at age 61. Her grandmother died of ovarian cancer at age 43. An uncle passed away in his 40s, again from cancer. Her aunt is a two-time breast cancer survivor, diagnosed at age 38 and again at 42.

“I just thought we just had a lot of bad luck,” she says of her family’s history. But when one of her sisters decided to get tested after experiencing ovarian cysts, she started thinking about her genetic history.

Inherited gene mutations are changes in the genetic code that affect a gene’s function. Some inherited gene mutations increase breast cancer risk. BRCA1 and BRCA2 are the most common genes linked to breast cancer, but p53, CHEK2, ATM, PALB2 also present some risk.

Haller’s sister tested negative (no genetic markers), so she figured she didn’t need to bother. She suspected that the prevalence of cancer in her family stemmed from environmental factors related to where they grew up.

But a few months later, Haller’s husband, a doctor, attended a conference on genetic testing and the BRCA mutations. After learning more about BRCA, he asked her to get tested.

Her first step was to meet with a genetic counselor, a medical professional, usually a nurse or physician’s assistant, who serves as an advisor for someone considering genetic testing. Haller’s genetic counselor reviewed her family history and explained the different genetic markers. After meeting with the counselor and reviewing all of the information, Haller made the decision to get tested.

Having a genetic mutation is not common. Only 5% of all breast cancers and 10% to 15% of ovarian cancers are tied to an inherited gene mutation. But because the risk of getting cancer is so high for someone who has a mutation, a person should consider genetic testing if he or she meets one or more of the following criteria:

• A personal history of breast cancer at age 50 or younger

• A personal history of triple negative breast cancer (not positive to receptors for the hormones estrogen, progesterone, and HER2)

• A personal or family history of male breast cancer

• A personal or family history of bilateral breast cancer (cancer in both breasts)

• A personal history of ovarian cancer

• A parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin diagnosed with breast cancer at age 45 or younger

• A mother, sister, daughter, grandmother, granddaughter, aunt, niece or first cousin diagnosed with ovarian cancer

• A family history of both breast and ovarian cancers on the same side of the family

• Ashkenazi Jewish heritage (those with Ashkenazi Jewish ancestry have a 1 in 40 chance of carrying a genetic mutation)

Haller was clearly a candidate for testing. Still, on the way to the test, she almost turned around. “It just felt surreal to me and I panicked. I didn’t want to do it,” she says. “But then I pictured my dad looking down at me from heaven, and I knew I had to.”

She took a simple blood test, which was then sent to a lab for analysis. A few weeks later, she met with the genetic counselor again to get her results and learned she was positive for BRCA1. “Of course, I was shocked. All I kept thinking was, ‘but I feel fine!’ It was overwhelming.”

The genetic counselor went over the results, gave her a list of family members to inform, and recommended next steps. The average woman has an estimated 8% risk of developing breast cancer before age 70 and less than a 2% chance of developing ovarian cancer. For someone with the BRCA1 marker, the risk increases to 55% to 65% for breast cancer and 30% to 70% for ovarian cancer. The BRCA1 genetic mutation also prevents the body from stopping cancer growth, which makes it harder to treat and more likely to recur.

Using a special computer program that evaluates family history in conjunction with the test results, the counselor told Haller she had an 87% lifetime risk of getting breast cancer and a 40% chance of getting ovarian cancer. And because of her family history, she was at risk for developing cancer early (before age 45) and dying from it.

“Knowledge is power for sure, but once I had the knowledge, I had to decide what to do with it,” Haller said. “The genetic counselor spent a lot of time reviewing my options. It’s important to meet with medical professionals who give you all of the information, but let you make your own decision.”

Some of the options presented included:

• Frequent screenings (bi-annual mammograms and ultrasounds), so that if cancer does present itself, it can be treated at its earliest stages

• Preventive medications to inhibit cancer growth

• Surgical removal of breasts and/or ovaries

Haller consulted a variety of doctors and specialists (10 total) to get more information and second opinions. Earlier this year, she had a double prophylactic mastectomy. The surgery went well and, with the support of her family and friends, her recovery is going smoothly. Although it was a very difficult experience, Haller says she has no regrets; she plans to have a preventive salpingo-oophorectomy (removal of ovaries and fallopian tubes) this fall. She hopes sharing her story will increase awareness of the BRCA gene mutation, and possibly prevent others from receiving a cancer diagnosis. The procedure reduced her risk of developing breast cancer to less than that of the general population.

“Everyone has to do what’s right for them, but for me, it was a no brainer,” she says. “I’m a mother, and I just can’t wait around in the hopes that I fall into that small percentage of BRCA positive women that don’t get cancer.”

She also shared her medical history with Baystate Health Foundation’s Rays of Hope group, and plans to donate her breast tissue so it can be used for research and study on breast health.

While the experience has been difficult for Haller, she remains positive. She hopes that by sharing her story, she can increase awareness of genetic markers like BRCA, so that the women, and men, too, who might be carriers can understand their risk.

The Office of the Surgeon General and the National Institute of Health, in collaboration with the Human Genome Project, created an online tool called “My Family Health Portrait” that allows users to create a chart of their family’s health history. This chart may be useful in discussions with your doctors about your family history of breast cancer and other health conditions.

For anyone who tests positive for a genetic mutation, it’s important to get support, medical and emotional. There are support groups, such as F.O.R.C.E. (Facing Our Risk of Cancer Empowered), Bright Pink, and My Support 360, that provide telephone helplines, online forums and information on local support groups in your area so that no one has to face this alone.