Gene mutation is clue about cancer risks among Ashkenazi women

By Toby Tabachnick September 23, 2009, 4:25 pm 0 Edit

Bryna Siegel is a healthy 32-year-old newlywed, a teacher, excited about the future, and planning to have a child.
Yet, the former Pittsburgher, whose parents, Howard and Marcia, still live in Squirrel Hill, has known for the last four years that eventually she will have to decide whether to undergo radical surgery in order to avoid cancer: removal of her ovaries and a mastectomy.
Like many Ashkenazi Jews, Siegel is a carrier of the BRCA2 gene mutation, which indicates an increased risk for both ovarian and breast cancer. Ashkenazi Jews are five times more likely to have the gene mutation than the general population: one in 40 Ashkenazi Jews carry the BRCA1 or BRCA2 gene mutation, both of which are indicators for increased cancer risk.
“Having the gene mutation doesn’t mean I’ll get cancer,” Siegel said. “But it’s extremely likely that I will.”
After her father’s cousin was diagnosed with breast cancer in 2004, several family members, including Siegel, were tested to see if they carried the gene mutation. As it turned out Siegel, her father and her brother all found they were carriers.
Because there have been so many cases of both ovarian and breast cancer on Siegel’s father side of the family, discovering she was a carrier of the gene mutation was not unexpected.
“The news was upsetting, but I was expecting it,” said Siegel. “When you grow up in a family where it is so prevalent, it’s not a surprise.”
Ovarian cancer is one of the deadliest forms of cancer among women. Each year, approximately 21,500 women are diagnosed with ovarian cancer, and an estimated 14,600 women will die of the disease in 2009.
Around 2 to 3 percent of Ashkenazi women carry BRCA1 or 2 mutations, increasing their risk of both breast and ovarian cancer, according to Dr. Kristin Zorn, a gynecologic oncologist at UPMC Magee-Women’s Hospital.
“Everyone has the BRCA 1 and BRCA 2 genes,” Zorn said. “Those are a normal part of functioning. But when people carry a mutation of those genes, they can develop cancer.”
Zorn said the prevalence of marriage within the Ashkenazi community kept the gene mutations from being “diluted” by other populations.
“A population like Ashkenazi that tended not to marry outside the faith tends to concentrate that effect,” Zorn said.
Even though knowing about the gene mutation has important implications for monitoring their health, many women know little if anything about their risk for ovarian cancer and its symptoms, according to Barb Smith, president of the National Ovarian Cancer Coalition, Pittsburgh Chapter.
There is no consistently reliable screening test to detect ovarian cancer; a Pap smear does not detect it, and the HPV vaccine Gardasil does not protect against it.
The symptoms of ovarian cancer in its early stages are “vague,” Zorn said, but include bloating, abdominal pain, cramping, and feeling full after meals.
Those symptoms are not “I’ve got cancer kinds of symptoms,” Zorn said, meaning ovarian cancer is difficult to catch early. Still, attempts at early detection are important because if detected in its earliest stage, there is a 90 percent chance of successfully treating the disease.
“When you have the BRCA 1 or 2 mutation, you have a 60 to 80 percent lifetime risk of developing breast cancer, and a 10 to 40 percent chance of developing ovarian cancer,” Zorn said. “That’s why we focus on counseling women who are high risk. We talk about screening and methods to prevent or treat the cancer as early as possible.”
Taking birth control pills for five years has been shown to decrease a woman’s risk of ovarian cancer, but for women who have completed their childbearing, and who are at high risk because of the gene mutation, Zorn said she often encourages prophylactic surgical removal of the fallopian tubes and the ovaries.
“Most women choose to go ahead with the prophylactic surgery when they have the mutation,” she said, “but they vary when they decide to do it.”
Siegel, who regularly sees a gynecological oncologist, says it’s “all about screening and prevention.” She not only has a mammogram every year, but she also has an annual breast MRI and a vaginal ultrasound. She said she would consider prophylactic surgery after the age of 40.
A genetics counselor can recommend a simple blood test that can determine whether a person carries the gene mutation, Zorn said, but she noted that it’s a very expensive test and an insurer would be more likely to cover its cost if a person has a strong family history of the disease and if that person is Ashkenazi.
September is Ovarian Cancer Awareness Month, and the Pittsburgh Chapter of National Ovarian Cancer Coalition will hold its 9th Annual “Walk to Break the Silence on Ovarian Cancer” on Sunday, Oct. 4, at the North Park Boathouse to raise funds, generate awareness and support survivors and their families and friends.
Howard Siegel, Bryna’s father and an active member of the NOCC, said that while the gene mutation indicates only a slight increase in risk of breast cancer and prostate cancer in men, he feels passionate about men supporting this cause.
“I tell other men, ‘You have a wife. You have a daughter. They need healthy people to help them with their problems.’”
Although he knows he is not at fault for passing on the gene mutation to his children, Howard Siegel still feels “guilty as hell” about putting his kids through this.
He noted, though, that he takes consolation in the fact that Bryna now is diligent about monitoring her health.
“She now sees a gynecological oncologist, and the doctor knows what to look for,” he said. “That makes me feel better.”