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Genetic Testing Helps Woman Make Informed Decisions About Health Care

By UCSF Science Cafe | August 11, 2007

"Have you ever seen a relative go through the cancer process?"

That's the first question San Francisco writer Doreen DeSalvo poses when asked whether she regrets getting tested -- and testing positively -- for Lynch syndrome.

Lynch syndrome is a hereditary cancer that carries a very high risk of colon cancer and an above-normal risk of endometrial, ovarian and other cancers. Far from regretting her decision, DeSalvo -- whose father and brother were stricken with colon cancer in their 40s -- now feels she possesses the knowledge to avoid the same fate.

"Because I know this, I'm less likely to end up like my dad," she says. "I always tell myself that I have a piece of information that could save my life."

When DeSalvo's brother was 45, about the age their father and other relatives were when diagnosed with colon cancer, he scheduled an appointment for a colonoscopy. Although he was asymptomatic, the screening revealed cancerous tumors the size of golf balls.

Though living in a different state, he tracked down Peggy Conrad, a genetic counselor at UCSF's Cancer Risk Program, and learned that his family's high incidence of cancer was more than mere coincidence. The center facilitated testing and counseling for DeSalvo's brother near his home, and after the gene was discovered, DeSalvo herself was tested at UCSF. Like her brother, she tested positively for the mutation of the MLH1 gene, the gene that accounts for the majority of detected mutations in families with Lynch syndrome.

Genetic Testing
DeSalvo soon realized she was at the right place. For 10 years, the UCSF Cancer Risk Program, part of the UCSF Comprehensive Cancer Center, has been the largest and most comprehensive genetic testing center for cancer susceptibility in Northern California.

(Note that in November 2007 the UCSF Comprehensive Cancer Center was renamed the UCSF Helen Diller Family Comprehensive Cancer Center.)


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