Role of POLE and POLD1 in familial cancer.
Pilar MurSandra García-MuleroJesús Del ValleLorena Magraner-PardoAugust VidalMarta PinedaGiacomo CinnirellaEdgar Martín-RamosTirso PonsAdriana López-DorigaSami BelhadjLidia FeliubadalóPau M Munoz-TorresMatilde NavarroElia GrauEsther DarderGemma LlortJudit SanzTeresa Ramón Y CajalJudith BalmanaJoan BrunetVictor MorenoJosep M PiulatsXavier Matías-GuiuRebeca Sanz-PamplonaRosa AliguéGabriel CapelláConxi LázaroLaura VallePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Polymerase proofreading-associated syndrome constitutes 0.1-0.4% of familial cancer cases, reaching 0.3-0.7% when only CRC and polyposis are considered. ED variant interpretation is challenging and should include multiple pieces of evidence.