Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group - (Author)
  • Finnish Lynch Syndrome Registry - (Author)
  • Department of Visceral, Thoracic and Vascular Surgery
  • Leipzig University
  • Heidelberg University 
  • German Cancer Research Center (DKFZ)
  • University of Helsinki
  • Johns Hopkins University
  • University of Bonn
  • Medisch Spectrum
  • University of Cologne
  • Isala Hospital Zwolle
  • Ludwig Maximilian University of Munich
  • Center for Medical Genetics and Primary Health Care
  • Amsterdam University Medical Centers (UMC)
  • University of Groningen
  • Leiden University
  • Witten/Herdecke University
  • Central Finland Hospital District
  • Heinrich Heine University Düsseldorf
  • Klinikum Hochsauerland
  • MVZ Arnsberg
  • Slingeland Hospital
  • Radboud University Nijmegen
  • Ruhr University Bochum
  • Maxima Medical Centre
  • Central Finland Central Hospital
  • University of Jyväskylä
  • University Hospital Carl Gustav Carus Dresden

Abstract

Background & Aims: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome–associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients. Methods: We combined clinical and molecular data from 3 studies. We obtained clinical data from 2747 patients with Lynch syndrome associated with variants in MLH1, MSH2, or MSH6 from Germany, the Netherlands, and Finland who received at least 2 surveillance colonoscopies and were followed for a median time of 7.8 years for development of adenomas or CRC. We performed DNA sequence analyses of 48 colorectal tumors (from 16 patients with mutations in MLH1, 29 patients with mutations in MSH2, and 3 with mutations in MSH6) for somatic mutations in APC and CTNNB1. Results: Risk of advanced adenoma in 10 years was 17.8% in patients with pathogenic variants in MSH2 vs 7.7% in MLH1 (P <.001). Higher proportions of patients with pathogenic variants in MLH1 or MSH2 developed CRC in 10 years (11.3% and 11.4%) than patients with pathogenic variants in MSH6 (4.7%) (P =.001 and P =.003 for MLH1 and MSH2 vs MSH6, respectively). Somatic mutations in APC were found in 75% of tumors from patients with pathogenic variants in MSH2 vs 11% in MLH1 (P =.015). Somatic mutations in CTNNB1 were found in 50% of tumors from patients with pathogenic variants in MLH1 vs 7% in MSH2 (P =.002). None of the 3 tumors with pathogenic variants in MSH6 had a mutation in CTNNB1, but all had mutations in APC. Conclusions: In an analysis of clinical and DNA sequence data from patients with Lynch syndrome from 3 countries, we associated pathogenic variants in MMR genes with risk of adenoma and CRC, and somatic mutations in APC and CTNNB1 in colorectal tumors. If these findings are confirmed, surveillance guidelines might be adjusted based on MMR gene variants.

Details

Original languageEnglish
Pages (from-to)1326-1333
Number of pages8
JournalGastroenterology
Volume158
Issue number5
Publication statusPublished - Apr 2020
Peer-reviewedYes

External IDs

PubMed 31926173

Keywords

Sustainable Development Goals

ASJC Scopus subject areas

Keywords

  • Cancer Risk, Genetic Analysis, Outcome, Prognostic Factor