CLSPN, claspin, 63967

N. diseases: 22; N. variants: 1
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 		0.340 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.340 Biomarker disease BEFREE Many previously identified susceptibility factors act in similar functional pathways as claspin, suggesting possible involvement of CLSPN in heritable breast cancer susceptibility. 18077083 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.340 GeneticVariation disease BEFREE A separate analysis of the CLSPN c.3839C>T (rs35490896) variant that was observed more frequently in breast tumors than in pancreatic tumors or normal controls failed to detect a significant association with breast cancer risk in a Mayo Clinic breast cancer case-control study. 18281469 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 Biomarker disease BEFREE Many previously identified susceptibility factors act in similar functional pathways as claspin, suggesting possible involvement of CLSPN in heritable breast cancer susceptibility. 18077083 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 GeneticVariation disease BEFREE A separate analysis of the CLSPN c.3839C>T (rs35490896) variant that was observed more frequently in breast tumors than in pancreatic tumors or normal controls failed to detect a significant association with breast cancer risk in a Mayo Clinic breast cancer case-control study. 18281469 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 GeneticVariation group BEFREE A separate analysis of the CLSPN c.3839C>T (rs35490896) variant that was observed more frequently in breast tumors than in pancreatic tumors or normal controls failed to detect a significant association with breast cancer risk in a Mayo Clinic breast cancer case-control study. 18281469 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 Biomarker group LHGDN Germline alterations in the CLSPN gene in breast cancer families. 18077083 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 GeneticVariation disease BEFREE To our knowledge, this is the first study reporting the mutation screening of the CLSPN gene in familial breast cancer cases. 18077083 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.340 Biomarker disease BEFREE We resequenced CLSPN from the germline of selected cancer families with a history of breast cancer (n = 25) or a multicancer phenotype (n = 46) as well as from a panel of sporadic cancer cell lines (n = 52) derived from a variety of tumor types. 19737971 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE Taken together, these observations raise the possibility that CLSPN may encode a component of the DNA-damage response pathway that is targeted by mutations in human cancers, suggesting the need for larger population-based studies to investigate whether CLSPN variants contribute to cancer susceptibility. 19737971 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 GeneticVariation group BEFREE Taken together, these observations raise the possibility that CLSPN may encode a component of the DNA-damage response pathway that is targeted by mutations in human cancers, suggesting the need for larger population-based studies to investigate whether CLSPN variants contribute to cancer susceptibility. 19737971 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 Biomarker disease BEFREE We resequenced CLSPN from the germline of selected cancer families with a history of breast cancer (n = 25) or a multicancer phenotype (n = 46) as well as from a panel of sporadic cancer cell lines (n = 52) derived from a variety of tumor types. 19737971 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE We resequenced CLSPN from the germline of selected cancer families with a history of breast cancer (n = 25) or a multicancer phenotype (n = 46) as well as from a panel of sporadic cancer cell lines (n = 52) derived from a variety of tumor types. 19737971 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 GeneticVariation phenotype BEFREE Here, we describe a study to determine whether mutational disruption of CLSPN contributes to cancer susceptibility and sporadic tumorigenesis. 19737971 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.340 AlteredExpression disease BEFREE Subsequent studies showed that BME treatment of breast cancer cells inhibited survivin and claspin expression. 20179194 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 AlteredExpression disease BEFREE Subsequent studies showed that BME treatment of breast cancer cells inhibited survivin and claspin expression. 20179194 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE In order to investigate whether claspin immunoreactivity is related to the lesion severity and High-Risk (HR) HPV infection, we analyzed claspin expression by immunohistochemistry in a series of cervical biopsies which represent the steps occurring during cervical carcinogenesis (normal tissues, Cervical Intraepithelial Neoplasias 1, 2 and 3, Squamous Cell Carcinomas). 22731782 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE In order to investigate whether claspin immunoreactivity is related to the lesion severity and High-Risk (HR) HPV infection, we analyzed claspin expression by immunohistochemistry in a series of cervical biopsies which represent the steps occurring during cervical carcinogenesis (normal tissues, Cervical Intraepithelial Neoplasias 1, 2 and 3, Squamous Cell Carcinomas). 22731782 2012
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE Both the ATR (ataxia telangiectasia and Rad3-related protein) kinase and the Replication pausing complex (RPC) components Tipin, Tim1 and Claspin play key roles in activating the intra S-phase checkpoint and in stabilizing the stalled replication forks. 22324461 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE Our results evidenced a constant and significant increase of the rate of claspin positivity from the normal tissues to carcinomas (pχ2(trend) < 0.0001). 22731782 2012
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 AlteredExpression phenotype BEFREE Claspin expression is significantly high in several human solid tumors. 22731782 2012
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 AlteredExpression disease BEFREE In order to investigate whether claspin immunoreactivity is related to the lesion severity and High-Risk (HR) HPV infection, we analyzed claspin expression by immunohistochemistry in a series of cervical biopsies which represent the steps occurring during cervical carcinogenesis (normal tissues, Cervical Intraepithelial Neoplasias 1, 2 and 3, Squamous Cell Carcinomas). 22731782 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE The expression levels of TopBP1 and Claspin were increased in the cancer cells that survived radiation therapy. 25216549 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 AlteredExpression group BEFREE The expression levels of TopBP1 and Claspin were increased in the cancer cells that survived radiation therapy. 25216549 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Functional analyses indicated that the expression TopBP1 and Claspin positively affects the survival of cancer cells and thus negatively the xenograft metastasis model animals in response to radiation. 25216549 2014