title: Genetic and epigenetic alterations as biomarkers for cancer detection, diagnosis and prognosis.
abstract: The development of cancer is driven by the accumulation of scores of alterations affecting the structure and function of the genome. Equally important in this process are genetic alterations and epigenetic changes. Whereas the former disrupt normal patterns of gene expression, sometimes leading to the expression of abnormal, constitutively active proteins, the latter deregulate the mechanisms such as transcriptional control leading to the inappropriate silencing or activation of cancer-associated genes. Both types of changes are inheritable at the cellular level, thus contributing to the clonal expansion of cancer cells. In this review, we summarize current knowledge on how genetic alterations in oncogenes or tumour suppressor genes, as well as epigenetic changes, can be exploited in the clinics as biomarkers for cancer detection, diagnosis and prognosis. We propose a rationale for identifying alterations that may have a functional impact within a background of "passenger" alterations that may occur solely as the consequence of deregulated genetic and epigenetic stability. Such functional alterations may represent candidates for targeted therapeutic approaches.
authors.affiliation: Group of Molecular Carcinogenesis and Biomarkers, International Agency for Research on Cancer, 150 Cours Albert Thomas, Lyon Cedex F-69008, Rhone-Alpes, France. herceg@iarc.fr
authors.forename: Zdenko
authors.initials: Z
authors.lastname: Herceg
authors.forename: Pierre
authors.initials: P
authors.lastname: Hainaut
mesh_terms: D000818:Animals; D014408:Biomarkers, Tumor / Q000096:biosynthesis / Q000235:genetics*; D044127:Epigenesis, Genetic; D015972:Gene Expression Regulation, Neoplastic; D016147:Genes, Tumor Suppressor; D006801:Humans; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics*; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D011379:Prognosis
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins