Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)

Henry T. Lynch, Thomas Smyrk, Jane F. Lynch

Research output: Contribution to journalReview articlepeer-review

69 Scopus citations


Hereditary nonpolyposis colorectal cancer (HNPCC), also termed Lynch syndrome, was originally called cancer family syndrome. Historically, in 1913 Aldred Warthin, a pathologist, published a family, now known as Family G, which had features of HNPCC. It was first delineated as a hereditary cancer syndrome in the mid-1960s by Lynch. There was an apparent autosomal dominant mode of inheritance of colorectal cancer and certain integral cancers, the most prominent of which was endometrial carcinoma. Prior to the discovery in 1993 and 1994 of genes (hMSH2, hMLH1, hPMS1, hPMS2) known as mismatch repair genes or mutator genes, the diagnosis of HNPCC rested exclusively upon evaluation of clinical findings in concert with a well-documented and extended pedigree. Thus, this disorder has evolved from a medical curiosity into a clinical syndrome wherein molecular biologists provided proof of its hereditary status. These discoveries should aid in elucidating its pathogenesis and carcinogenesis and in the next decade we likely will learn more about chemoprevention and surgical prophylaxis of HNPCC.

Original languageEnglish (US)
Pages (from-to)103-108
Number of pages6
Issue number2
StatePublished - Feb 9 1998


  • Colorectal cancer
  • Genetics
  • Hereditary nonpolyposis colorectal cancer
  • Lynch syndrome

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


Dive into the research topics of 'Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)'. Together they form a unique fingerprint.

Cite this