Loading
Polymerase proofreading-associated polyposis is a rare inherited condition, caused by a fault in the proofreading part of the POLE or POLD1 gene, that causes bowel polyps and early bowel cancer, and womb cancer with POLD1. Care is planned at a specialist centre because there are too few patients for a fixed schedule.
Autosomal dominant. Palles 2013 (Nature Genetics) found the high-penetrance heterozygous variants POLE p.Leu424Val and POLD1 p.Ser478Asn in families with multiple adenomas and early colorectal cancer; POLD1 was also associated with endometrial cancer. The tumours are microsatellite stable and hypermutated by base substitutions.
BSG 2020 found insufficient clinical data for specific guidance and recommends referral to a multidisciplinary expert centre (weak recommendation, low evidence). The AACR 2024 update groups it with Lynch syndrome and constitutional mismatch repair deficiency as replication repair deficiency syndromes, and notes aggressive brain tumours in some children with these syndromes and the response of hypermutant cancers to checkpoint immunotherapy.
In plain words · POLE (DNA polymerase epsilon catalytic subunit A) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Ovarian cancer, Lung cancer and 5 more.
Showing the target this term concerns: POLE.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Endometrial cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Every source this page cites, grouped by who published it. Grouping is read from the web address, not assigned by hand.
A source that has moved or gone is reported by the weekly link check. /audit/