POLE-related polyposis and colorectal cancer syndrome

POLE-related polyposis and colorectal cancer syndrome is a hereditary condition caused by changes in the POLE gene. It is inherited in an autosomal dominant pattern, which means that the change can be passed from one generation to the next. People with this condition are known to develop colorectal polyps, which are growths in the colon, and may have a higher risk of developing colorectal cancer. This summary is based on the definition provided and describes the main features of this condition.

People with this condition may develop colorectal polyps. These polyps can be found during routine colon screenings and, in some cases, may lead to colorectal cancer. Specific symptoms beyond these findings were not detailed in the available information.

This condition is caused by pathogenic variants in the POLE gene. It follows an autosomal dominant inheritance pattern, meaning that having an affected parent increases the likelihood of inheriting the variant. The genetic change directly contributes to the development of colorectal polyps and cancer in people with this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.