EXO1, exonuclease 1, 9156

N. diseases: 87; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 AlteredExpression disease BEFREE High expression level of EXO1 protein was significantly associated with poor OS in breast cancer patients (p=0.03). 31777591 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 Biomarker disease BEFREE We tested seven polymorphisms in DNA repair genes XRCC1, ERCC2, XRCC3, XRCC2, EXOI and TP53 for a possible association with breast cancer risk in a sample of 672 case and 672 control Russian women. 25537147 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 Biomarker disease CTD_human Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 GeneticVariation disease GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.430 GeneticVariation disease BEFREE Our results provide evidence that the A allele of EXO1 K589E may be associated with the development of breast cancer and may be a useful biomarker for breast cancer detection and primary prevention. 19846925 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE In addition, polymorphisms of EXO1, LIG3, and PolB may modulate the risk of colorectal cancer by decreasing (PolB) or increasing (LIG3 and EXO1) the chance of malignant transformation. 26649135 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE The aim of the present study was to examine the association between the L757P polymorphism at exon 13 of the EXO1 gene and the risk of CRC in Iranian patients. 20854105 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 Biomarker disease CTD_human MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria. 17656264 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE The EXO1 genotypes were not associated with any clinicopathological characteristics in colorectal cancer patients. 15550454 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE In one recent study, germline variants of EXO1 were reported to be associated with predisposition to colorectal cancer in families with phenotypes similar to hereditary nonpolyposis colon cancer (HNPCC). 14623461 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease BEFREE We evaluated a series of European CRC patients and population controls to clarify whether EXO1 variants may indeed predispose to familial CRC. 12517792 2003
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 GeneticVariation disease BEFREE We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant. 26811195 2016
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients. 24484585 2014
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN Because of functional similarity to Fen1, and because Exo1 is involved in DNA mismatch repair (MMR) by interaction with Msh2 and Mlh1, genes that cause hereditary nonpolyposis colorectal cancer (HNPCC), we investigated the possibility that Exo1 might also act as a modifier to Apc(1638N). 17452984 2007
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease BEFREE This study questions the functional significance of previously reported variants of EXO1 reported in HNPCC-like families and suggests that in humans there may be other as yet undiscovered proteins that have exonuclease function overlapping with that of EXO1 in DNA mismatch repair. 14623461 2003
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease BEFREE Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene. 12517792 2003
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene. 12517792 2003
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN Evidence made available in this study sheds light on the pathogenesis of HNPCC, perhaps initiated by an additional MMR gene, hEXO1. 12414623 2002
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 GeneticVariation disease BEFREE Recently, eight missense mutations in hEXO1 were identified in atypical HNPCC patients, who have been screened to be negative for hMSH2, hMLH1, and hMSH6 mutations. 12414623 2002
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. 11429708 2001
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 GeneticVariation disease BEFREE Germline variants of EXO1 were detected in 14 patients, including one splice-site mutation in a family with HNPCC and 13 missense mutations in patients with atypical HNPCC. 11375940 2001
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.350 Biomarker disease CLINGEN Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis. 10856833 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 GeneticVariation disease BEFREE A significant copy number variation (CNV) of the Exo1 gene was found in HCC specimens in three separate sets of published microarray data. 30328366 2018