MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report
作者: Victoria M. RaymondArden M. MorrisKhaled S. HafezJoel K. Greenson
作者单位: 1University of Michigan
刊名: Familial Cancer, 2015, Vol.14 (1), pp.77-80
来源数据库: Springer Nature Journal
DOI: 10.1007/s10689-014-9753-0
关键词: Lynch syndromeMLH1 promotor hypermethylationGenetic testingColorectal cancer
英文摘要: Abstract(#br)There are approximately 136,830 new colorectal cancer (CRC) cases diagnosed annually in the United States. In an effort to identify those at highest risk for Lynch Syndrome, an inherited CRC predisposition syndrome, several professional guidelines advocate for routine screening of all colorectal adenocarcinomas for features of DNA mismatch repair, microsatellite instability (MSI) and/or absent immunohistochemistry staining. Approximately 12–17 % of CRCs demonstrate MSI with germline mutations in genes involved in DNA mismatch repair, MLH1, MSH2, MSH6, PMS2 and TACSTD1/EPCAM and somatic MLH1 promotor hypermethylation being alternative pathways for the development of microsatellite unstable CRC. It is important to distinguish between these two events as the underlying cause of...
全文获取路径: PDF下载  Springer Nature  (合作)
影响因子:1.935 (2012)

  • promotor 促进剂
  • diagnosis 特镇述
  • syndrome 症候群