Mutations in genes involved in the DNA mismatch repair (MMR) system can lead to Lynch syndrome (a form of colorectal cancer that is the most common inherited cancer syndrome), significant numbers of sporadic (non-inherited) colorectal cancers and other types of cancer as well. Loss of MMR leads to greater numbers of cancer-causing mutations and makes cancers more resistant to conventional chemotherapeutic agents.

Winfried Edelmann, Ph.D., has received a five-year, $2 million National Institutes of Health grant to study genetically modified mouse lines and human xenograft tumors containing mutated MMR genes derived from patients with Lynch syndrome. He and his colleagues will study whether inhibiting the protein mTOR helps in preventing or treating colorectal cancer in these models. The studies may provide insights into the cellular and molecular mechanisms that underlie MMR-deficient colorectal tumor development and lead to strategies for preventing and treating colorectal cancers in patients known to have MMR gene defects.

Dr. Edelmann is professor of cell biology and of genetics and is the Joseph and Gertrud Buchler Chair in Transgenic Medicine at Einstein. (1R01CA248536-01A1)