Gene signature

A gene signature or gene expression signature is a single or combined group of genes in a cell with a uniquely characteristic pattern of gene expression[1] that occurs as a result of an altered or unaltered biological process or pathogenic medical condition.[2] This is not to be confused with the concept of gene expression profiling. Activating pathways in a regular physiological process or a physiological response to a stimulus results in a cascade of signal transduction and interactions that elicit altered levels of gene expression, which is classified as the gene signature of that physiological process or response.[3] The clinical applications of gene signatures breakdown into prognostic, diagnostic[4][5] and predictive signatures. The phenotypes that may theoretically be defined by a gene expression signature range from those that predict the survival or prognosis of an individual with a disease, those that are used to differentiate between different subtypes of a disease, to those that predict activation of a particular pathway. Ideally, gene signatures can be used to select a group of patients[6] for whom a particular treatment will be effective.[7][8]

  1. ^ Itadani H, Mizuarai S, Kotani H (Aug 2008). "Can systems biology understand pathway activation? Gene expression signatures as surrogate markers for understanding the complexity of pathway activation". Curr Genomics. 9 (5): 349–60. doi:10.2174/138920208785133235. PMC 2694555. PMID 19517027.
  2. ^ Liu J, Campen A, Huang S, Peng SB, Ye X, Palakal M, Dunker AK, Xia Y, Li S (Sep 2008). "Identification of a gene signature in cell cycle pathway for breast cancer prognosis using gene expression profiling data". BMC Med. Genom. 1: 39. doi:10.1186/1755-8794-1-39. PMC 2551605. PMID 18786252.
  3. ^ Chibon F (May 2013). "Cancer gene expression signatures - the rise and fall?". European Journal of Cancer. 49 (8): 2000–9. doi:10.1016/j.ejca.2013.02.021. PMID 23498875.
  4. ^ Warner DF (March 2016). "Defining a diagnostic gene signature for tuberculosis". The Lancet. Respiratory Medicine. 4 (3): 170–1. doi:10.1016/s2213-2600(16)00063-1. PMID 26907219.
  5. ^ Nguyen HG, Welty CJ, Cooperberg MR (January 2015). "Diagnostic associations of gene expression signatures in prostate cancer tissue" (PDF). Current Opinion in Urology. 25 (1): 65–70. doi:10.1097/mou.0000000000000131. PMID 25405934. S2CID 29746661.
  6. ^ Wouters BJ, Löwenberg B, Erpelinck-Verschueren CA, van Putten WL, Valk PJ, Delwel R (Mar 2009). "Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome". Blood. 113 (13): 3088–91. doi:10.1182/blood-2008-09-179895. PMC 2662648. PMID 19171880.
  7. ^ Hassane DC, Guzman ML, Corbett C, Li X, Abboud R, Young F, Liesveld JL, Carroll M, Jordan CT (Jun 2008). "Discovery of agents that eradicate leukemia stem cells using an in silico screen of public gene expression data". Blood. 111 (12): 5654–62. doi:10.1182/blood-2007-11-126003. PMC 2424160. PMID 18305216.
  8. ^ Corsello SM, Roti G, Ross KN, Chow KT, Galinsky I, DeAngelo DJ, Stone RM, Kung AL, Golub TR, Stegmaier K (Jun 2009). "Identification of AML1-ETO modulators by chemical genomics". Blood. 113 (24): 6193–205. doi:10.1182/blood-2008-07-166090. PMC 2699238. PMID 19377049.