Those interested in more information about the BRCA mutation can contact the San Juan Regional Medical Center's Cancer Navigator at 505-609-6259. Additional information about support and resources available to those diagnosed with BRCA is available at www.brightpink.com.
In light of the news, one local woman and her mother — who also share the same genetic link — sat down to tell their story.
Mollie Mook-Fiddler has been the San Juan College theater instructor and director for the past year. When she was eight years old, her mother, Annelle Mook, was diagnosed with breast cancer — and survived. As a result, Mook-Fiddler has always been vigilant about getting yearly mammograms and checking for lumps. She thought she was doing everything she could to protect herself from the cancer that struck her mother.
Several years ago, Mook-Fiddler began experiencing symptoms, such as exhaustion, constipation, bloating and abdominal pain.
"I started to look like I was pregnant and was having to hide my belly with large shirts and jackets. I just thought I was gaining weight," she said. "I had had surgery earlier for endometriosis, and I thought that's what was causing the pain. But it started to feel like I was walking around with a barbell in my belly.
Because of her busy schedule — she was directing three play productions — she ignored the symptoms for a year.
One day, while shopping for groceries, she doubled over with intense pain. She called her mother, who took her to the emergency room. Blood tests and a CAT scan revealed she had a tumor the size of a grapefruit on one of her ovaries. She was told she had stage three ovarian cancer. She promptly had her ovaries removed and began chemotherapy.
"It was all very scary. I started reading about ovarian cancer and learned that those diagnosed at that stage are given only a 30 percent chance of survival," she said.
Because her mother had only been 39 at the time her breast cancer was discovered — and because Mook-Fiddler's ovarian cancer had been diagnosed at the young age of 37 — doctors told her it was a possible tip-off for BRCA, a genetic mutation that dramatically increases the risk of developing breast and ovarian cancers. They asked Mook-Fiddler if she wanted to be genetically tested for the mutation.
She did, and she tested positive for BRCA1.
"I never knew about this risk. If I had known there was such a strong possibility that I had the genetic mutation and that I could get ovarian cancer because my mother developed breast cancer so young, I would have gotten tested much earlier," she said.
Both BRCA1 and BRCA2 are genes known as tumor suppressors. According to the National Cancer Institute, women with mutations of either gene are five times more likely to develop breast cancer. Those woman have a 60 percent chance of developing breast cancer in their lifetimes, compared with 12 percent of women in the general population.
Women with the mutated BRCA1 gene also have a 15 to 40 percent chance of being diagnosed with ovarian cancer, compared to the 1.4 percent risk for the general population.
Because the mutation could have come from either Mook-Fiddler's mother or late father, her mother also chose to be tested. Like her daughter, Mook tested positive for BRCA1. Although she had her breasts removed years earlier when her cancer was discovered, Mook chose to also have her ovaries removed to prevent ovarian cancer.
While Mook-Fiddler was undergoing chemotherapy for ovarian cancer, she found a lump in her left breast that turned out to be malignant, prompting her to have a double mastectomy and breast reconstruction. Even before finding the lump, though, Mook-Fiddler decided to have the double mastectomy — a decision her mother wholeheartedly supported.
"It would have been foolish not to have (the breasts) removed," Mook said.
While breast cancer screening methods have become more effective, leading to better detection and survival rates, ovarian cancer is another matter.
"Ovarian cancer is harder to detect because there's no good screening test for it," said Dr. Linh Nguyen, a radiation oncologist with the San Juan Regional Cancer Center. "By the time women develop symptoms such as pelvic pain, persistent bowel symptoms, feeling badly, etc., the disease has already reached an advanced stage."
As for the BRCA mutation, Nguyen explains that it does not cause cancer. Rather, it inhibits the body's ability to fight off the disease.
"Everyone has BRCA1 and BRCA2 genes in their bodies," he explained. "The genes, when not mutated, suppress tumor growth. When they're mutated, they are unable to suppress the cancer."
Nguyen stresses that this mutation is rare — less than 0.5 percent of women carry it — and said most breast cancers are not hereditary.
"I really don't want (the recent spotlight on BRCA) to scare people. Less than 10 percent of breast cancers are associated with some sort of genetic mutation. Even with a family history of breast cancer, in most cases breast cancer is not related to genetic mutations," he said.
Because of the rarity of the condition, Nguyen said certain criteria must be met before genetic testing is indicated. The testing is expensive — about $3,000 — but if patients qualify, insurance covers the cost. If a woman tests positive, all immediate family members should be tested for the mutation.
He added that men can also carry the BRCA mutation and can be susceptible to breast, prostate and other cancers if they have it.
Women who do test positive for the BRCA mutation, Nguyen said, are counseled to proceed with having their ovaries removed, but there are several options available to them regarding their breasts.
"The majority will choose to have a mastectomy, in addition to having their ovaries removed," he said. "But it's also possible to just have the ovaries removed, which will reduce by half the chance of developing breast cancer. More frequent breast cancer screenings and mammography can also be done."
Mook has been cancer-free since her initial treatment. Mook-Fiddler must be tested every three months, but, for the past two years, she has tested cancer-free. She explains that even when ovaries have been removed, there is a 70 percent chance of recurrence within the first few years due to cancer cells that may remain within the abdomen. If she makes it to five years without a recurrence, she will have a good chance of being considered cured.
In the meantime, the mother and daughter have made it their mission to get the word out about BRCA and the importance of being proactive.
"If your mother had ovarian or breast cancer at a relatively young age or there's a family history, you need to be very aggressive about getting tested," Mook-Fiddler said. "Breast cancer is very treatable, but ovarian cancer not so much. You need to be annoying about (getting tested) if that's what it takes."
Mook agrees that early detection and education are key. She praises movie star and activist Jolie for bringing the subject into the limelight.
"We're so grateful to Angelina Jolie because she has brought out so much conversation about BRCA," Mook said. "What I don't understand is how some people can say that her decision (to have a double mastectomy) was extreme. She had to do it, and she did it for her family."
Both the mother and daughter said their cancer experiences, although painful, delivered great gifts, including the ability to fully appreciate the love and support of family members who helped them through their ordeals.
The cancer also prompted lifestyle changes.
"I started eating very healthily, and I learned a lot about inflammation and the effect of sugar on the body. I've kind of become a health freak, and I've never felt better," said Mook-Fiddler. "It was a gift. I mean, I wouldn't want to wrap cancer up and give it to someone as a present, but it was a gift to me. I used to be absolutely terrified of death, but not anymore. Once you face death, I don't think you're ever really afraid of it again."
Mook says one of the greatest gifts she received was learning to take the time to observe life before it passed her by. Being forced to slow down gave her the chance to do more things with her daughters, like going bird-watching in the woods and gazing together at the planets and stars through a telescope.
"Cancer does slow you down. But there's a whole world of beauty you never see when you're moving too fast. When you slow down, you see how unbelievably beautiful life is," she said.
Leigh Black Irvin can be reached at email@example.com; 505-564-4610. Follow her on Twitter @irvindailytimes.