Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE One known pathogenic variant in POLD1 was detected (p.S478N), together with variants in 17 candidate genes not previously associated with CRC. 31555933 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Refinement of estimates of CRC risk for POLD1 carriers is needed; however, clinical management recommendations could follow those made for POLE carriers. 29120461 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Eleven of the 132 study subjects (8.3%) carried either a POLD1 or a POLE mutation: 7 of 68 (10.3%) subjects with multiple colorectal adenomas and 4 of 64 (6.2%) subjects with early-onset mismatch repair proficient colorectal cancer. 30086056 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Mutations in the POLD1 and POLE genes encoding DNA polymerases δ (Polδ) and ɛ (Polɛ) cause hereditary colorectal cancer (CRC) and have been found in many sporadic colorectal and endometrial tumors. 28368425 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. 28423643 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 Biomarker disease BEFREE Beyond deficient-MMR tumors, somatic or germline DNA polymerase D1 (POLD1) or DNA polymerase E (POLE) alterations cause a hypermutated phenotype in CRC. 28427513 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). 28306219 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE In addition to the POLE p.L424V recurrent mutation in a patient with polyposis, CRC and oligodendroglioma, six novel or rare POLD1 variants (four of them, p.D316H, p.D316G, p.R409W, and p.L474P, with strong evidence for pathogenicity) were identified in nonpolyposis CRC families. 26133394 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Notably, germline mutations in either POLE/POLD1 were seen in 8.5% of patients who will require appropriate genetic counseling regarding risk of developing colorectal carcinoma and on the need for additional surveillance for colonic changes. 26748215 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE We examined 1188 familial CRC and polyposis index patients for POLE p.(Leu424Val) and POLD1 p.(Ser478Asn) variants using competitive allele-specific PCR. 25370038 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE POLE/POLD1 exodom mutations were identified in three patients with family histories consistent with dominant transmission of CRC. 25559809 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1). 26169059 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE Germline mutations in the exonuclease (proofreading) domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal cancer and endometrial cancer. 24509466 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE We have recently shown that germline POLE and POLD1 exonuclease domain mutations (EDMs) predispose to colorectal cancer (CRC) and, in the latter case, to endometrial cancer (EC). 23528559 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 GeneticVariation disease BEFREE A new study reports the identification of germline CRC risk variants that adversely affect the proofreading function of DNA polymerases encoded by POLE and POLD1. 23358219 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 Biomarker disease CTD_human Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline variants in several multiple-adenoma and/or CRC cases but in no controls. 23263490 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 AlteredExpression disease BEFREE These results suggest that an increase in the expression of cdk2/cdc2 in colorectal cancer may have prevented pRB from braking the cell cycle through phosphorylation. 7779716 1995
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.600 Biomarker disease GENOMICS_ENGLAND