POLQ, DNA polymerase theta, 10721

N. diseases: 32; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 AlteredExpression disease BEFREE POLQ overexpression is present in many cancer types and is associated with poor prognosis, including breast cancer regardless of BRCA1 status. 30655289 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE Error-Prone Replication through UV Lesions by DNA Polymerase θ Protects against Skin Cancers. 30773314 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE The crucial role of DNA polymerase eta in protecting against sunlight-induced tumors is evidenced in Xeroderma Pigmentosum Variant (XP-V) patients, who carry mutations in this protein and present increased frequency of skin cancer. 30362123 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE DNA polymerase eta is one such specialized enzyme whose function is directly associated with casual development of certain skin cancers and chemo-resistance. 30535880 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE POLQ overexpression is present in many cancer types and is associated with poor prognosis, including breast cancer regardless of BRCA1 status. 30655289 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 GeneticVariation disease BEFREE Defects in DNA polymerase Eta (Polη) cause the sunlight-sensitivity and skin cancer-propensity disorder xeroderma pigmentosum variant. 29859927 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 Biomarker disease BEFREE POLQ is a member of a cluster of similarly upregulated genes that are strongly correlated with poor clinical outcome for breast cancer, ovarian cancer and other cancer types. 27264557 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE POLQ is a member of a cluster of similarly upregulated genes that are strongly correlated with poor clinical outcome for breast cancer, ovarian cancer and other cancer types. 27264557 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 GeneticVariation disease BEFREE These results suggest that variants in the POLQ gene may be associated with the risk of Luminal breast cancer. 25417172 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 GeneticVariation disease BEFREE These results suggest that variants in the POLQ gene may be associated with the risk of Luminal breast cancer. 25417172 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 Biomarker disease BEFREE We analyzed through case-control study nine SNPs of POLQ in hereditary (HBC) and sporadic (SBC) breast cancer patients using Taqman Real Time PCR assays. 25409685 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE We analyzed through case-control study nine SNPs of POLQ in hereditary (HBC) and sporadic (SBC) breast cancer patients using Taqman Real Time PCR assays. 25409685 2014
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 GeneticVariation disease BEFREE Deficiencies of DNA polymerase eta-an enzyme mediating replication past UV-induced DNA damage-predispose individuals to xeroderma pigmentosum variant (XPV) and result in a high incidence of skin cancers. 21640722 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 AlteredExpression disease BEFREE DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability. 20624954 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 AlteredExpression disease BEFREE We therefore correlated the clinical outcomes of two retrospective series of patients with early breast cancer with the expression levels of POLQ, as determined by microarray gene expression analysis. 20700469 2010
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE Structural basis for the suppression of skin cancers by DNA polymerase eta. 20577207 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability. 20624954 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 AlteredExpression disease BEFREE We therefore correlated the clinical outcomes of two retrospective series of patients with early breast cancer with the expression levels of POLQ, as determined by microarray gene expression analysis. 20700469 2010
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 GeneticVariation disease BEFREE A deficiency in DNA polymerase eta due to germ-line mutations in POLH causes the hereditary disease xeroderma pigmentosum variant (XPV), which is characterized by sunlight sensitivity and extreme predisposition to sunlight-induced skin cancer. 19564618 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 Biomarker disease BEFREE In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer. 18281469 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 Biomarker disease BEFREE In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer. 18281469 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE POLQ overexpression is present in many cancer types and is associated with poor prognosis, including breast cancer regardless of BRCA1 status. 30655289 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE POLQ overexpression is present in many cancer types and is associated with poor prognosis, including breast cancer regardless of BRCA1 status. 30655289 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 GeneticVariation group BEFREE DNA polymerase η mutational signatures are found in a variety of different types of cancer. 29139326 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.050 Biomarker phenotype BEFREE A substantial excess of single and tandem somatic mutations within known pol η mutable motifs was noted in skin cancer as well as in many other types of human cancer, suggesting that somatic mutations in A:T bases generated by DNA polymerase η are a common feature of tumorigenesis. 29139326 2018