Gene mutation reason for preventative mastectomy

Jolie’s story shines light on 

a choice many face

Gene mutation reason for preventative mastectomy

By Robin Erb Free Press Medical Writer

   She heard the announcement on the way to work Tuesday — that Angelina Jolie had revealed she’d opted for a double mastectomy to guard against breast cancer — and Jeanette Kowal was thrilled.

   Not that Kowal wishes the choice on anyone. But the news by Jolie prompted Kowal, who has the same genetic mutation as Jolie, and women across the nation to hope the revelation brings into focus the excruciating decisions faced by thousands of women every year.

   In a New York Times piece Tuesday, the 37-year-old actress and humanitarian wrote that she quietly underwent a preventive double mastectomy after discovering she carried the BRCA1 gene mutation, a chromosomal glitch that makes its carriers five times more likely than others to develop breast cancer, according to the National Cancer Institute.

   “My chances of developing breast cancer have dropped from 87% to under 5%,” said Jolie, whose mother died at 56 with ovarian cancer. “I can tell my children that they don't need to fear they will lose me to breast cancer .”    Jolie, who has six children, wrote that she feels “empowered that I made a strong choice that in no way diminishes my femininity.”

   Jolie’s partner, actor Brad Pitt, called her decision “absolutely heroic.”

   In addition to increasing the chances of breast and ovarian cancer, the mutations in the BRCA1 and BRCA2 genes can spin into other cancers.

   “I was tickled,” said Kowal, a Wyandotte mother of two and an insurance wholesaler. “I envisioned genetic counselors across the nation giggling with anticipation of how people will finally go, ‘Oh, there’s finally a celebrity that will bring recognition to this.’ ”

   Carriers of the genetic misprint often suspect they are genetically vulnerable after a mother or aunt or sisters are diagnosed with cancer, and they realize the cancer has threaded through a family tree.

   Kowal’s mother died at 54 with ovarian cancer. Her grandmother and great-grandmother also died of cancer. And in 2007, Kowal’s younger sister, Amanda Shields, then 31, was diagnosed with breast cancer.

   Both sisters have since had their breasts removed.

   For Kowal and Shields and other women who suspect they’ve inherited a vulnerability to cancer, life’s decisions — marriage, children, jobs and health insurance — become painful considerations of mortality, self-esteem and family planning.

   Even submitting to genetic testing is a difficult call. Do they really want confirmation of their genetic risk?

   And if they test positive for the mutation, is a mastectomy the right option? What about the ovaries? What about conceiving children who also may carry the potentially deadly gene? What do you tell the children who share those genetics? Should they be tested when they’re old enough, or does a parent shield them from the worry?

   Shields had wanted to know her odds after her mother’s death in 2005.

   On April 26, 2007, her tests came back from the University of Michigan Breast and Ovarian Cancer Risk Evaluation Program: Shields carried the mutation in her BRCA 1 gene.

   Then, four months later, a nurse called Shields’ cell phone while she was at a work picnic. Breast cancer had shown up in her left breast.

   She knew who to call: her sister and best friend.

   “I confided in her my own fears and how glad I knew about my options — as scary as they seemed,” said Shields, who now lives in Chicago.

   In October of that year, doc tors removed both of Shields’ breasts — the cancerous left breast and the right breast as a preventative move.

   “It was good not having that cloud over my head,” said Shields, who, now 36, has married and has two young daughters. She said she wrestles with when she will tell them of their chances of carrying the gene mutation.

   In 2011, as another precaution, Shields allowed doctors to take her fallopian tubes and ovaries, too.

   But Kowal was hesitant at first — even about genetic testing, which can run about $4,000, although many insurers cover it.

   “I was more iffy. I was afraid of how I would feel, and afraid of the emotion of the decision and then what to do with the information. I was fearful of the disease, but also fearful of having to make the deci sions,” Kowal said.

   She, too, has since undergone the same preventive surgeries as her sister.

   “Ultimately, the decision became very, very clear. I felt empowered,” she said.

   Since the Beaumont Health System’s cancer genetics program began in 2005, testing has identified about 380 patients who carry the BRCA gene mutations, said Dr. Dana Zakalik, the program’s corporate director.

   Among the first questions is the issue of breast removal.

   “For some women who have done a lot of reading or have a personal experience of seeing cancer take a loved one’s life, it’s a no-brainer,” Zakalik said.

   Others? “They’re not ready. For some women, they connect their breasts to their sense of wholeness and femininity,” she said.

   That’s fine, said Kara Milli ron, a genetics counselor at the University of Michigan Breast and Ovarian Cancer Risk Evaluation Program.

   Every decision is personal — whether it is to get tested or what to do if testing reveals a mutation, she said.

   Every decision must be made without pressure from others, including doctors and medical personnel, she said.

   And every decision is subject to change as carriers grow through different stages of life, she said.

   “One of the biggest barriers is that patients feel like we’re going to tell them what to do,” Milliron said. “We only give them the information. We’re not here to sell them something or pressure them into something.”

   Milliron, Zakalik, Kowal and Shields all say they hope Jolie’s story “demystifies” genetic testing and preventivesurgeries, empowering women to face those decisions head-on.

   The lesson from Jolie and others who have faced down BRCA gene mutations is this, said Kowal: Understanding genetic risk isn’t necessarily “a death sentence ... It’s an opportunity to be empowered.”

   Contact Robin Erb: 313-222-2708 or rerb@freepress.com  . Follow her on Twitter at @freephealth

Actress Angelina Jolie, 37, who lost her mother to cancer and has six kids, had both breasts removed after learning she faced an 87% chance of cancer. AP

Jeanette Kowal of Wyandotte, left, and sister Amanda Shields, who lives in Chicago wrestled with the fallout of learning that they’ve inherited a vulnerability to cancer. Both had preventive surgeries to reduce their risk of developing the disease. FAMILY PHOTO FROM 2006

NO GUARANTEES

   Preventive surgeries and drugs can greatly improve the odds that carriers of the BRCA mutations don’t develop cancer. But they are no guarantees. Amy Rauch-Neilson, who was featured in the Free Press several times in her fight against the genetic mutation, asked doctors after her 2006 treatment to remove her ovaries and breasts. She fought, she told the Free Press, for her husband and little boy, Theo. But cancer returned. She died last year at age 43. Friends and loved ones periodically update the blog she created to raise awareness about hereditary breast cancer. It can be found at http:// itsinthegenes.wordpress.com  .

NEED SUPPORT?

   Two metro Detroit chapters of Facing Our Risk of Cancer Empowered (FORCE) support those who suspect or have confirmed they are carriers of the genetic vulnerability to cancer. Both have regularly scheduled meetings this week. The Southeast Michigan chapter is scheduled to meet at 7 p.m. tonight at the Royal Oak Meeting Room, on 3577 W. Thirteen Mile Road, according to www.facing   ourrisk.org  . An Ann Arbor group meets 6 p.m. Thursday at the Cancer Support Community office at 2010 Hogback Road. For more information, go to the website or call 866-288-7475.