POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Fernando BellidoMarta PinedaGemma AizaRafael Valdés-MasMatilde NavarroDiana A PuenteTirso PonsSara GonzálezSilvia IglesiasEsther DarderVirginia PiñolJosé Luís SotoAlfonso ValenciaIgnacio BlancoMiguel UriosteJoan BrunetConxi LázaroGabriel CapelláXose S PuenteLaura VallePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Our results widen the phenotypic spectrum of the POLE/POLD1-associated syndrome and identify novel pathogenic variants. We propose guidelines for genetic testing and surveillance recommendations.Genet Med 18 4, 325-332.