{"id":25143,"date":"2024-01-31T20:47:17","date_gmt":"2024-01-31T19:47:17","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=25143"},"modified":"2025-08-26T12:56:51","modified_gmt":"2025-08-26T10:56:51","slug":"pole-mutation","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/pole-mutation\/","title":{"rendered":"POLE-Mutation"},"content":{"rendered":"

POLE-Mutation \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

The POLE<\/em> gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 (CRC12), endometrial cancer and other carcinomas. In some cases pathogenic variant POLE<\/em> causes the FILS syndrome or IMAGE syndrome.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

POLE1<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gen:<\/p>\n<\/div><\/div><\/div>

POLE <\/i>(polymerase (DNA directed), epsilon, catalytic subunit)<\/span><\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

POLE<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Function:<\/p>\n<\/div><\/div><\/div>

DNA repair and chromosomal DNA replication<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Prevalence:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>