SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
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
0.100 Biomarker disease BEFREE Murine models of breast cancer frequently exhibit SEPT9 amplification in the form of double minute chromosomes, and about 20% of human breast cancer display genomic amplification and protein over expression at the SEPT9 locus. 31285548 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE SEPT9 isoform 1 protein (SEPT9_i1) has been associated with breast tumor development and the enhancement of cell migration; however, the exact mechanism of how SEPT9_i1 might affect breast cancer progression remains to be elucidated. 31558699 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE In the present study, we analyze the protein expression of Sept9_i2, an uncharacterized isoform, in breast cancer cell lines and tumors and describe its specific impact on cancer cell migration and Sept9 cytoskeletal distribution. 28338090 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE These results indicate that SEPT9_v2 promoter hypermethylation, which silences the expression of SEPT9_v2 mRNA, is observed in a significant proportion of breast tumors, and that methylated SEPT9_v2 may serve as a novel tumor marker for breast cancer. 27499429 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE This comprehensive analysis of SEPT9 provides substantial evidence for increased SEPT9 expression as a consequence of genomic amplification and is the first study to profile SEPT9_v1 through SEPT9_v7 isoform-specific mRNA expression in tumor and nontumor tissues from patients with breast cancer. 24127542 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Regulation of SEPT9 expression is complex and not well understood; however, hypermethylation of the gene was recently introduced as a biomarker for early detection of colorectal cancer (CRC) and has been linked to cancer of the breast and of the head and neck. 23988185 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE In a previous issue of Breast Cancer Research, Connolly and colleagues present compelling data further supporting a role for SEPT9 isoforms in early breast cancer development as well as evidence suggesting that cellular localization patterns of SEPT9 isoforms may contribute to oncogenesis. 22236777 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Using an integrative approach, we investigated SEPT9 at the genetic, epigenetic, mRNA and protein levels in breast cancer. 21831286 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE This Cav-1(-/-) MSF gene signature is predictive of poor clinical outcome in breast cancer patients treated with tamoxifen. 19234134 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE High SEPT9_v1 expression in human breast cancer cells is associated with oncogenic phenotypes. 17875694 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Real-time PCR analysis revealed a consistently increased expression of septin 9 (Sept9), not only in polyomavirus middle T antigen-induced, but in a wide variety of mouse models of breast cancer. 12727837 2003