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Lynch Syndrome

The genetic disease, Lynch syndrome, can significantly increase the risk of colon and other cancers.

BY Kathy LaTour
PUBLISHED March 14, 2013

Sharon Perlman, co-founder of the Colon Cancer Alliance for Research & Education for Lynch Syndrome, travels the country to national cancer organization meetings that pertain to colon and uterine cancers. Her goal is to educate and increase awareness of Lynch syndrome, a genetic disease that dramatically increases the risk of colon and uterine cancers, as well as ovarian, stomach, brain, intestine, kidney, biliary tract and skin cancers.

Of the roughly 160,000 Americans diagnosed with colon cancer each year, about 3 percent have Lynch syndrome, which brings with it an 80 percent chance of developing cancer at some point in the person’s life—often before age 50.

“Knowing about Lynch syndrome is important for patients and their family members to prevent future cancers,” Perlman says. “Our efforts are focused on educating individuals and healthcare providers because we can increase the awareness of Lynch syndrome, identify affected individuals, and then diagnose cancers at their earliest possible stage.”

Like BRCA 1 and 2, Lynch syndrome is hereditary, due to a mutation in one of several genes, and children of a parent with Lynch syndrome have a 50 percent risk of inheriting the gene mutation.

Perlman’s mission came from a personal experience with the syndrome that began at age 42 when she was diagnosed with uterine cancer, the same age her mother had been diagnosed with the same cancer.

“I felt pain and bloating, but my gynecologist dismissed my concerns about the symptoms and my family history,” Perlman says.

“I knew something wasn’t right, and since you can’t test for uterine or ovarian cancer, I changed clinicians,” she adds.

Perlman had a hysterectomy and the physician found uterine cancer. “The problem,” she says, “was that he didn’t test for Lynch syndrome. With Lynch syndrome there is up to a 71 percent chance of uterine cancer and a 12 percent chance of ovarian cancer, so the standard practice is to have the hysterectomy and oophorectomy.”

Shortly after Perlman’s cancer diagnosis, several other family members developed colon cancer at an early age, including her sister. Had she received treatment specific to carriers of Lynch syndrome and not the standard colon cancer treatment, her odds of survival would have increased, Perlman says. Instead, she died at age 42. Lynch syndrome is the most common genetic cause of colon cancer, and the average age at onset is 44.

Shortly after her sister’s death, Perlman decided to be tested and learned she had Lynch Syndrome. It explained her mother’s cancer and her sister’s death, as well as the death of her 5-month-old child from a brain tumor.

With knowledge comes power for those who have Lynch syndrome, says Perlman. Screening and personal awareness make the difference.

For more details, visit fightlynch.org.

With knowledge comes power for those who have Lynch syndrome. Screening and personal awareness make the difference.

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