POLE and POLD1 are ‘DNA repair’ genes that help to protect against bowel and small intestine polyps. They also help to protect against bowel, small intestine, endometrial and brain cancer.
Everyone has two POLE genes and two POLD1 genes (one from their mother, and one from their father). If one of these genes is not working, this is known as having a faulty POLE or POLD1 gene, or having a POLE or POLD1 mutation. People with a faulty POLE or POLD1 gene are known to have polymerase proofreading-associated polyposis.