POLD1

1 article(s) in the watch · Constitutional genetics

POLD1 encodes the catalytic subunit of DNA polymerase delta. Proofreading-domain variants cause polymerase proofreading-associated polyposis.

InheritanceAutosomal dominant

Clinical spectrumPolyposis, colorectal and endometrial cancer

ManagementClose surveillance colonoscopy; endometrial surveillance.

Curated publications

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Huntington's disease — genetic modifiers of age at onset