Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Soci... - PubMed - NCBI

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Soci... - PubMed - NCBI

Gastroenterology. 2017 Mar 22. pii: S0016-5085(17)30175-0. doi: 10.1053/j.gastro.2017.02.011. [Epub ahead of print]

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.

Durno C1, Boland CR2, Cohen S3, Dominitz JA4, Giardiello FM5, Johnson DA6, Kaltenbach T7, Levin TR8, Lieberman D9, Robertson DJ10, Rex DK11.

Author information

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.

Copyright © 2017 AGA Institute, The American College of Gastroenterology, the American Society for Gastrointestinal Endoscopy, and European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology. Published by Elsevier Inc. All rights reserved.

KEYWORDS:

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

PMID:

 

28363489

 

DOI:

 

10.1053/j.gastro.2017.02.011

Specific PHGKB|Cancer|PHGKB

Colorectal Cancer Genomics

- Cancer PHGKB -

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