Microsatellite instability and MLH1 and MSH2 germline defects are related to clinicopathological features in sporadic colorectal cancer

Mara Fornasarig, Alessandra Viel, Maurizio Valentini, Eugenia Capozzi, Roberto Sigon, Antonio De Paoli, Lara Della Puppa, Mauro Boiocchi

Research output: Contribution to journalArticlepeer-review

Abstract

Clinical and pathological features were evaluated to predict tumor microsatellite instability (MSI) and germline mutations in MLH1 and MSH2 DNA mismatch repair genes in two patient groups with sporadic colorectal cancer (CRC): 38 young patients (age ≤45 years) and 31 old patients (age ≥60 years). Nine (25.7%) young patients out of 35 and five (16%) old patients out of 31 exhibited MSI in their cancers. MSI+ cancers were related to proximal cancer and mucinous carcinoma independently of the age at cancer onset. Three (7.9%) out of 38 young patients had mutations in MLH1 and MSH2 genes that led to truncated protein products; they were all at age

Original languageEnglish
Pages (from-to)39-43
Number of pages5
JournalOncology Reports
Volume7
Issue number1
Publication statusPublished - 2000

Keywords

  • Colorectal cancer
  • Early onset
  • Microsatellite instability
  • Mismatch repair genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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