| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Germline mutations affecting the exonuclease domains of POLE and POLD1 predispose to colorectal adenomas and carcinoma. | 30827058 | 2019 | ||||
|
0.080 | 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 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. | 25529843 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Germline variants affecting the exonuclease domains of POLE and POLD1 predispose to multiple colorectal adenomas and/or colorectal cancer (CRC). | 25370038 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Recently, we identified germline exonuclease domain mutations (EDMs) in human POLD1 and POLE that predispose to 'polymerase proofreading associated polyposis' (PPAP), a disease characterised by multiple colorectal adenomas and carcinoma, with high penetrance and dominant inheritance. | 24583393 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Recently, families with dominantly inherited colorectal adenomas and colorectal cancer were shown to have a causative heterozygous germline mutation in the proofreading exonuclease domain of POLE. | 24788313 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | 23263490 | 2013 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We have recently shown that germline exonuclease domain mutations (EDMs) of POLE and POLD1 confer a high risk of multiple colorectal adenomas and carcinoma (CRC). | 23447401 | 2013 |