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Cancer mutations common

Yale Medicine Magazine, 2007 - Spring


Cancer gene mutations are found in about 1 percent of the general population, more frequently than previously thought, according to Yale researchers.

The study published in the December 6 issue of the Journal of the National Cancer Institute looked for the presence and rate of BRCA1 and BRCA2 mutations in women with newly diagnosed ovarian cancer. Those mutations have been linked to elevated lifetime risks for breast, ovarian and other cancers.

The scientists screened for the most common mutations as well as rare or hard-to-distinguish variants. They then calculated the incidence of those variants in the general population and in individuals with family members who have had cancer. The Yale team found that the lifetime risk to age 80 is not the same for all mutations.

“The exact nature of the level of risk for the particular mutations needs to be further explored,” said lead researcher Harvey A. Risch, M.D.,Ph.D., professor of epidemiology. “This study is an important first step in that direction.”

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