The International Mismatch Repair Consortium

  • Mark A. Jenkins
  • Jeanette C. Reece
  • Aung K. Win
Chapter

Abstract

The International Mismatch Repair Consortium (IMRC) is a collaboration of clinicians and scientists who have agreed to pool and analyse data on Lynch syndrome, a genetic predisposition to cancer caused by germline mutations in DNA mismatch repair genes or EPCAM deletion, with the rationale that research on this hereditary syndrome will benefit from large datasets from many countries. As of October 2017, the IMRC includes approximately 273 members from 122 centres/clinics in 29 countries throughout Africa, Asia, Australasia, Europe, and North and South America, who are involved in research or treatment of people with Lynch syndrome and their families. To date, there are six research projects registered at the IMRC: cancer risks for Lynch syndrome, classification of mismatch repair variants, genetic testing and screening practices, environmental and lifestyle modifiers of cancer risk, inherited methylation and cancer risks for family members of constitutional mismatch repair deficiency (CMMR-D) patients. The most significant project, in terms of data accrued, is the study of cancer risks for Lynch syndrome which mainly asks whether age-specific cumulative risk (penetrance) of cancers differs by country or geographic region. As of October 2017, almost 6200 pedigrees from investigators from approximately 24 countries have been submitted for penetrance analysis – see http://www.sphinx.org.au/imrc.

Keywords

Colorectal cancer Lynch syndrome Penetrance MLH1 MSH2 MSH6 PMS2 EPCAM International Risk factors Cohort Family history 

Notes

Acknowledgement

The National Health and Medical Research Council, Australia, has supported this research via a project grant and via research fellowships. We thank all researchers, clinicians and genetic counsellors at participating centres who have given their time and resources and the Lynch syndrome families.

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Mark A. Jenkins
    • 1
    • 2
  • Jeanette C. Reece
    • 1
  • Aung K. Win
    • 1
    • 2
  1. 1.Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Sciences, The University of MelbourneParkvilleAustralia
  2. 2.University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer CentreParkvilleAustralia

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