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 K. Rex

Research output: Contribution to journalArticle

17 Citations (Scopus)

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)
Pages (from-to)1605-1614
Number of pages10
JournalGastroenterology
Volume152
Issue number6
DOIs
StatePublished - May 1 2017

Fingerprint

Advisory Committees
Research
Health Personnel
Colorectal Neoplasms
Turcot syndrome

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

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 K.

In: Gastroenterology, Vol. 152, No. 6, 01.05.2017, p. 1605-1614.

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 K. / 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: Gastroenterology. 2017 ; Vol. 152, No. 6. pp. 1605-1614.
@article{3250f38e4a154bb3bee8064bddac15e3,
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.",
keywords = "Biallelic Mismatch Repair Deficiency, BMMRD, Cancer, Childhood Cancer, CMMRD, Colorectal Cancer, Constitutional Mismatch Repair Deficiency, DNA Mismatch Repair, Lynch Syndrome",
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 Rex, {Douglas K.}",
year = "2017",
month = "5",
day = "1",
doi = "10.1053/j.gastro.2017.02.011",
language = "English (US)",
volume = "152",
pages = "1605--1614",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W.B. Saunders Ltd",
number = "6",

}

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 K.

PY - 2017/5/1

Y1 - 2017/5/1

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.

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.

KW - Biallelic Mismatch Repair Deficiency

KW - BMMRD

KW - Cancer

KW - Childhood Cancer

KW - CMMRD

KW - Colorectal Cancer

KW - Constitutional Mismatch Repair Deficiency

KW - DNA Mismatch Repair

KW - Lynch Syndrome

UR - http://www.scopus.com/inward/record.url?scp=85016829420&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85016829420&partnerID=8YFLogxK

U2 - 10.1053/j.gastro.2017.02.011

DO - 10.1053/j.gastro.2017.02.011

M3 - Article

C2 - 28363489

AN - SCOPUS:85016829420

VL - 152

SP - 1605

EP - 1614

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 6

ER -