title: CpG methylation analysis--current status of clinical assays and potential applications in molecular diagnostics: a report of the Association for Molecular Pathology.
abstract: Methylation of CpG islands in gene promoter regions is a major molecular mechanism of gene silencing and underlies both cancer development and progression. In molecular oncology, testing for the CpG methylation of tissue DNA has emerged as a clinically useful tool for tumor detection, outcome prediction, and treatment selection, as well as for assessing the efficacy of treatment with the use of demethylating agents and monitoring for tumor recurrence. In addition, because CpG methylation occurs early in pre-neoplastic tissues, methylation tests may be useful as markers of cancer risk in patients with either infectious or inflammatory conditions. The Methylation Working Group of the Clinical Practice Committee of the Association of Molecular Pathology has reviewed the current state of clinical testing in this area. We report here our summary of both the advantages and disadvantages of various methods, as well as the needs for standardization and reporting. We then conclude by summarizing the most promising areas for future clinical testing in cancer molecular diagnostics.
authors: Methylation Working Group of the Association for Molecular Pathology Clinical Practice Committee, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
authors: Antonia R
authors: AR
authors: Sepulveda
authors: Dan
authors: D
authors: Jones
authors: Shuji
authors: S
authors: Ogino
authors: Wade
authors: W
authors: Samowitz
authors: Margaret L
authors: ML
authors: Gulley
authors: Robin
authors: R
authors: Edwards
authors: Victor
authors: V
authors: Levenson
authors: Victoria M
authors: VM
authors: Pratt
authors: Bin
authors: B
authors: Yang
authors: Khedoudja
authors: K
authors: Nafa
authors: Liying
authors: L
authors: Yan
authors: Patrick
authors: P
authors: Vitazka
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000235:genetics*; D018899:CpG Islands; D019175:DNA Methylation; D004262:DNA Restriction Enzymes / Q000378:metabolism; D018450:Disease Progression; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D020868:Gene Silencing; D006801:Humans; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000145:classification / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D011401:Promoter Regions, Genetic; D011786:Quality Control; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D013447:Sulfites / Q000737:chemistry
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; D013447:Sulfites; D004262:DNA Restriction Enzymes; C042345:hydrogen sulfite