AN APC MUTATION ASSOCIATED WITH FAMILIAL COLORECTAL CANCER IN ASHKENAZI JEWS

摘要

During routine screening of a patient with a family history of colorectal cancer for truncating APC mutations, a novel missence mutation was identified. Upon further evaluation, it was found that 6 % of Ashkenazi Jews carry this mutation, and that it was present in SIMILAR 20 % of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.