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 AlteredExpression disease BEFREE Subsequent studies showed that BME treatment of breast cancer cells inhibited survivin and claspin expression. 20179194 2010
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.340 GeneticVariation disease UNIPROT
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 GeneticVariation group BEFREE In addition, we identified three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, and SRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants in ACACA, NR2C2, INPP4A, and DIDO1. 30809968 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 AlteredExpression group BEFREE As expected for a protein with key roles in checkpoint signalling and genome duplication, aberrations of Claspin expression and structure have been observed in cancer. 29931808 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE Being a key player in the replication stress response, checkpoint activation, and the DNA damage response, Claspin constitutes an attractive therapeutic target in cancer, namely for radio- and chemo-sensitization. 30798932 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 Biomarker group BEFREE Being a key player in the replication stress response, checkpoint activation, and the DNA damage response, Claspin constitutes an attractive therapeutic target in cancer, namely for radio- and chemo-sensitization. 30798932 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 AlteredExpression group BEFREE As expected for a protein with key roles in checkpoint signalling and genome duplication, aberrations of Claspin expression and structure have been observed in cancer. 29931808 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 GeneticVariation group BEFREE In addition, we identified three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, and SRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants in ACACA, NR2C2, INPP4A, and DIDO1. 30809968 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE To conclude, we will discuss means by which Claspin can be targeted for cancer therapy. 28942358 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.060 Biomarker group BEFREE To conclude, we will discuss means by which Claspin can be targeted for cancer therapy. 28942358 2017
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: 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 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 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: 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: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Accumulating evidence suggests that Claspin inactivation could be an essential event during carcinogenesis, indicating that Claspin may function as a tumour suppressor. 28942358 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 AlteredExpression phenotype BEFREE Accumulating evidence suggests that Claspin inactivation could be an essential event during carcinogenesis, indicating that Claspin may function as a tumour suppressor. 28942358 2017
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