EXO1, exonuclease 1, 9156

N. diseases: 74; N. variants: 17
Source: BEFREE ×
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 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 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 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
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
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
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
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
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: 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 GeneticVariation disease BEFREE Associations between single-nucleotide polymorphisms of human exonuclease 1 and the risk of hepatocellular carcinoma. 27894089 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 GeneticVariation disease BEFREE Because our results suggest for the first time that the Lys/Lys homozygote genotype of Exo 1 K589E polymorphism may be a genetic susceptibility factor for HCC in the Turkish population, further independent studies are required to validate our findings in a larger series, as well as in patients of different ethnic origins. 22205538 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 GeneticVariation disease BEFREE No statistically significant differences were found in the allele or genotype distributions of the Exo 1 T439M polymorphism among HCC and cancer-free control subjects (P>0.05). 22296401 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.330 GeneticVariation group BEFREE Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. 14623461 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 AlteredExpression group BEFREE Analysis of mRNA expression profiles in breast tumors demonstrates that those with lower Trex1 and higher BLM and EXO1 expression levels are associated with poor prognosis. 28279982 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 Biomarker group BEFREE Expression of EXO1 module was found as indicative of elevated cell proliferation, genomic instability, activated RAS/AKT/MYC/E2F1 signaling pathways and loss of p53 activity in breast tumors. mRNA-drug connectivity analysis indicates inhibition of RAS/PI3K as a possible targeted therapeutic approach for the patients with activated EXO1 module in breast tumors. 24147022 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE Validation in The Cancer Genome Atlas primary cohort indicated EXO1 expression was significantly associated with lymph node Met and disease-free survival. 30775798 2019