Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Carol Durno, C. Richard Boland, Shlomi Cohen, Jason A. Dominitz, Frank M. Giardiello, David A. Johnson, Tonya Kaltenbach, T. R. Levin, David Lieberman, Douglas J. Robertson, Douglas Rex

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome. This position paper outlines what is known about BMMRD, the unique genetic and clinical aspects of the disease, and reviews the current management approaches to this disorder. This article represents a starting point from which diagnostic and management decisions can undergo rigorous testing for efficacy. There is a lack of strong evidence and a requirement for further research. Nevertheless, providers need direction on how to recognize and care for BMMRD patients today. In addition to identifying areas of research, this article provides guidance for surveillance and management. The major challenge is that BMMRD is rare, limiting the ability to accumulate unbiased data and develop controlled prospective trials. The formation of effective international consortia that collaborate and share data is proposed to accelerate our understanding of this disease.

Original languageEnglish (US)
JournalGastroenterology
DOIs
StateAccepted/In press - 2017

Keywords

  • Biallelic Mismatch Repair Deficiency
  • BMMRD
  • Cancer
  • Childhood Cancer
  • CMMRD
  • Colorectal Cancer
  • Constitutional Mismatch Repair Deficiency
  • DNA Mismatch Repair
  • Lynch Syndrome

ASJC Scopus subject areas

  • Gastroenterology

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    Durno, C., Boland, C. R., Cohen, S., Dominitz, J. A., Giardiello, F. M., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D., Robertson, D. J., & Rex, D. (Accepted/In press). Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. https://doi.org/10.1053/j.gastro.2017.02.011