Update on Hereditary Colorectal Cancer

Anticancer Res. 2016 Sep;36(9):4399-405. doi: 10.21873/anticanres.10983.


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.

Keywords: 4ereditary non-polyposis colorectal cancer; FCCTX; Lynch syndrome; Lynch-like syndrome; mismatch repair; review.

Publication types

  • Review

MeSH terms

  • Base Pair Mismatch
  • Biomarkers, Tumor / genetics
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / physiopathology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / physiopathology*
  • DNA Mismatch Repair
  • DNA Repair
  • Gene Rearrangement
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Microsatellite Repeats
  • Mutation
  • Phenotype
  • Risk Factors


  • Biomarkers, Tumor