Woman with breast cancer gene mutation takes radical action

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Claudine Wrighter, 34, and her mother, Claudette Poutre, 72, both tested positive for a gene mutation which increases cancer risk. After Poutre survived breast cancer, Wrighter had a partial hysterectomy as a preventative measure.Christine Hochkeppel/Cape Cod Times

cmccormick@capecodonline.com
October 21, 2010 2:00 AM

POCASSET — Claudine Wrighter says people act surprised when she tells them she elected to have a partial hysterectomy at age 34.

“So many people looked at me and said ‘You did what?'” the Pocasset mother of two young girls says.

But after testing positive for a gene mutation that increases her risk of ovarian and breast cancer, Wrighter says having the surgery was the best decision she could make for herself and her family.

“Why live in fear?” she asks.

Wrighter found out she was at increased risk of developing breast or ovarian cancer after her mother, Claudette Poutre of Falmouth, was diagnosed with breast cancer last year at age 71.

Although it turned out to be an early-stage cancer, physicians were concerned about Poutre’s family history of breast cancer. Poutre’s sister has ovarian cancer, and her mother and four aunts died of cancer – including breast and ovarian cancer.

“My aunts died very young.” Poutre says.

Her concern led her to follow her doctor’s recommendation that she undergo genetic testing at Dana-Farber Cancer Institute in Boston.

“Especially with our family history, it’s just too risky” not to, she says.

It turned out Poutre inherited the BRCA1 gene, known as breast cancer susceptibility gene 1.

BRCA1 and another mutation known as BRCA2 increase the lifetime risk of women getting breast cancer from 12 percent (or 120 out of 1,000) to about 60 percent and the risk of getting ovarian cancer from 1.4 percent to 15 to 40 percent, according to the National Cancer Institute.

The BRCA1 and BRCA2 genes were discovered in the mid-1990s, says Carly Grant, a genetic counselor at Dana-Farber.

The genes are known tumor suppressors, especially of cancers in the breast and ovarian tissues, she says.

But one in 800 to 1,000 people is born with a gene alteration or mutation that hinders the tumor-suppressant function of the gene, Grant says.

“Only 5 to 10 percent of cancer has a hereditary basis; that includes breast cancer,” she says.

But for people with a strong family history of breast or ovarian cancer, genetic testing can make sense, Grant says.

Prophylactic removal of ovaries almost totally eliminates the risk of ovarian cancer, although there are still cells left in the abdominal wall that could become malignant, Grant says.

Women with the BRCA1 gene mutation specifically have a 20 to 40 percent chance of getting ovarian cancer in their lifetime, she says. Removal of the ovaries before menopause also may reduce breast cancer risk because the ovaries produce estrogen, which feeds many types of breast cancer, Grant says.

Wrighter and her sister also had their blood drawn for traces of the hereditary cancer gene. Her sister did not inherit the genetic mutation, but Wrighter found out in November that she had.

“It was like someone had a crystal ball looking into your life,” Wrighter says. “It was an emotional roller coaster.”

The results meant she was five times more likely to get breast cancer than a woman who does not have a genetic mutation.

She and her husband, Chris Wrighter – who have 5- and 3-year-old daughters – met with an oncologist and a genetic counselor at Dana-Farber to decide the best plan of action.

Wrighter decided to have her ovaries and fallopian tubes removed in a procedure known as a prophylactic salpingo-oophorectomy Sept. 21 at Brigham and Women’s Hospital in Boston.

The procedure eliminated the chance she’d get ovarian cancer and cut her risk of getting breast cancer in half, Wrighter says.

She may consider a prophylactic mastectomy in the future, but says for now she is satisfied with quarterly breast-health checkups.

“To be honest, I feel luckier than most women,” Wrighter says. “If they catch me, they’ll catch me – knock on wood – so much earlier.”

She decided not to wait to have her ovaries removed because the chance of getting ovarian cancer – known as a silent killer — increases every year after age 35.

Wrighter also has three brothers she would like to see tested for the genetic mutation. Not only are they at higher risk of male breast cancer and early prostate cancer if they have the gene, she says their daughters also should be tested.

Wrighter is on low-dosage hormone-replacement therapy to stave off early menopause and says she feels better every day following her surgery.

“It’s been a long year, but I gave the gift to my husband and I gave the gift to my children by making this decision,” she says.

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