Update on hereditary colorectal cancer

Research output: Contribution to journalReview article


In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome. Prospective and next-generation studies will provide valuable clinical information regarding the natural history of disease that will help differentiate the Lynch syndrome mimics and guide diagnosis and management for heterogeneous conditions currently grouped under the category of familial CRC. The review is intended to present and discuss the molecular nature of various conditions related to MMR deficiency and discusses the tools and strategies that have been used in detecting these conditions.


  • Felipe Carneiro Da Silva
  • Patrik Wernhoff
  • Constantino Dominguez-Barrera
  • Mev Dominguez-Valentin
External organisations
  • Federal University of Piauí
  • Oslo university hospital
  • National University of San Marcos
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • 4ereditary non-polyposis colorectal cancer, FCCTX, Lynch syndrome, Lynch-like syndrome, Mismatch repair, Review
Original languageEnglish
Pages (from-to)4399-4406
Number of pages8
JournalAnticancer research
Issue number9
Publication statusPublished - 2016 Sep 1
Publication categoryResearch