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.
N1 - Publisher Copyright:
© 2017 by the American College of Gastroenterology.
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.
UR - http://www.scopus.com/inward/record.url?scp=85016109871&partnerID=8YFLogxK
U2 - 10.1038/ajg.2017.105
DO - 10.1038/ajg.2017.105
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 28349994
AN - SCOPUS:85016109871
SN - 0002-9270
VL - 112
SP - 682
EP - 690
JO - American Journal of Gastroenterology
JF - American Journal of Gastroenterology
IS - 5
ER -