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

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.Am J Gastroenterol advance online publication, 28 March 2017; doi:10.1038/ajg.2017.105.

Original languageEnglish (US)
JournalAmerican Journal of Gastroenterology
DOIs
StateAccepted/In press - Mar 28 2017

Fingerprint

Advisory Committees
Colorectal Neoplasms
Research
Health Personnel
Publications
Turcot syndrome

ASJC Scopus subject areas

  • Gastroenterology

Cite this

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

In: American Journal of Gastroenterology, 28.03.2017.

Research output: Contribution to journalArticle

Durno, Carol ; Boland, C. Richard ; Cohen, Shlomi ; Dominitz, Jason A. ; Giardiello, Frank M. ; Johnson, David A. ; Kaltenbach, Tonya ; Levin, T. R. ; Lieberman, David ; Robertson, Douglas J. ; Rex, Douglas. / 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. In: American Journal of Gastroenterology. 2017.
@article{a6475f88958446648d014d56d7ffb1b5,
title = "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",
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.Am J Gastroenterol advance online publication, 28 March 2017; doi:10.1038/ajg.2017.105.",
author = "Carol Durno and Boland, {C. Richard} and Shlomi Cohen and Dominitz, {Jason A.} and Giardiello, {Frank M.} and Johnson, {David A.} and Tonya Kaltenbach and Levin, {T. R.} and David Lieberman and Robertson, {Douglas J.} and Douglas Rex",
year = "2017",
month = "3",
day = "28",
doi = "10.1038/ajg.2017.105",
language = "English (US)",
journal = "American Journal of Gastroenterology",
issn = "0002-9270",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome

T2 - A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

AU - Durno, Carol

AU - Boland, C. Richard

AU - Cohen, Shlomi

AU - Dominitz, Jason A.

AU - Giardiello, Frank M.

AU - Johnson, David A.

AU - Kaltenbach, Tonya

AU - Levin, T. R.

AU - Lieberman, David

AU - Robertson, Douglas J.

AU - Rex, Douglas

PY - 2017/3/28

Y1 - 2017/3/28

N2 - 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.Am J Gastroenterol advance online publication, 28 March 2017; doi:10.1038/ajg.2017.105.

AB - 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.Am J Gastroenterol advance online publication, 28 March 2017; doi:10.1038/ajg.2017.105.

UR - http://www.scopus.com/inward/record.url?scp=85016109871&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85016109871&partnerID=8YFLogxK

U2 - 10.1038/ajg.2017.105

DO - 10.1038/ajg.2017.105

M3 - Article

JO - American Journal of Gastroenterology

JF - American Journal of Gastroenterology

SN - 0002-9270

ER -