Breast Cancer Gene Mutation Also Reveals Risk For Ovarian Cancer
Last week, actress Angelina Jolie sparked a national dialogue about breast cancer prevention, but her "faulty" gene also increases her risk for ovarian cancer, which has significantly higher mortality rates. NY1's Erin Billups filed the following report.
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Anna Ruffino lost her aunt in January 2012, then her mother that November, to the same disease.
"My grandmother's still alive," Ruffino says. "She lost two daughters in the same year from ovarian cancer, which is unreal."
Ruffino's mother, Janice Santoro, was diagnosed with the disease eight years after her sister, Karen O'Neil.
"My mom, she never told her gynecologist that her sister had ovarian cancer," Ruffino says. "They just, you know, women don't speak about it. 'Oh, it's not gonna happen to me.'"
Dr. Noah Kauff of Memorial Sloan-Kettering says family history is essential in determining whether women are at risk for ovarian cancer.
Unlike breast cancer, which can be screened for manually or through mammograms, ovarian cancer usually sneaks up on its victims.
"Unfortunately, ovarian cancer screening has not been shown to reduce risk in women in any group, not in the general population, not in women who have a BRCA1 or BRCA2 mutation," Kauff says.
Those mutations have gotten a lot of press recently, as actress Angelina Jolie revealed she has it, prompting her to get a double mastectomy to prevent breast cancer. But the BRCA mutations also lead to an increased risk for ovarian cancer.
Depending on a woman's age, Kauff says removing the ovaries and Fallopian tubes is usually recommended, which is what Jolie is reportedly considering as well.
"It's unfortunately the best of bad options," Kauff says.
That's just what Ruffino did, plus a double mastectomy, after finding out she carries the BRCA mutation.
"I didn't want to die," she says. "I don't want my children to see me suffer the way my aunt and my mother suffered."
Kauff says there is hope when it comes to ovarian cancer screening.
"We have maybe been looking at the wrong organ for the last 50 years," he says.
Recent studies have pushed scientists to focus instead on the Fallopian tubes as the cancer source.
For now, Ruffino says her family is fighting cancer with dialogue.
"It has to be spoken about and not be afraid of," she says. "You can't ignore it. Otherwise, you die."