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 missense mutation was identified. Upon further evaluation, it was found that 6% of Ashkenazi Jews carry this mutation, and that it was present in .sup.. about. 20% of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.