Genetic Mutation Doubles Colon Cancer Risk

The study was published in the September 20, 2002, issue of Science.

The mutation occurs in a gene called BLM and is found in about 1% of individuals descended from Ashkenazi Jews. The relationship between the mutation and increased risk of colon cancer was discovered by two teams of scientists, working independently, who analyzed DNA from nearly 3,100 people of Ashkenazi Jewish ancestry living in northern Israel and New York City (NY, USA). When the two scientific teams discovered they had complementary results, they elected to jointly publish in one paper.

"When this mutation is inherited from both parents, it causes a serious disorder called Bloom syndrome, which greatly increases an individual's predisposition to cancer,” said Stephen B. Gruber, M.D., Ph.D., first author and director of clinical cancer genetics at the Comprehensive Cancer Center of the University of Michigan (Ann Arbor, USA; www.umich.edu).The New York data for the study were collected by scientists at Memorial Sloan-Kettering Cancer Center (NY, USA; www.mskcc.org).

"Until now, carriers of one mutant copy were thought to have no increased cancer risk. But our data show that people who inherit the mutation from just one parent face a two- to three-times greater risk for colorectal cancer,” added Dr. Gruber.




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Univ. of Michigan
Sloan-Kettering