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.
authors.affiliation: Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Hospital for Sick Children, Zane Cohen Center, Mount Sinai Hospital, University of Toronto, Ontario, Canada.
authors.forename: Carol
authors.initials: C
authors.lastname: Durno
authors.affiliation: Department of Medicine (Gastroenterology), University of California San Diego, San Diego, California, USA.
authors.forename: C Richard
authors.initials: CR
authors.lastname: Boland
authors.affiliation: Pediatric Gastroenterology Unit of Dana-Dwek Children's Hospital, Sackler Faculty of Medicine, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Shlomi
authors.initials: S
authors.lastname: Cohen
authors.affiliation: VA Puget Sound Health Care System, Seattle, Washington, USA.|University of Washington School of Medicine, Seattle, Washington, USA.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Dominitz
authors.affiliation: Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Frank M
authors.initials: FM
authors.lastname: Giardiello
authors.affiliation: Eastern Virginia Medical School, Norfolk, Virginia, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Johnson
authors.affiliation: Veterans Affairs Palo Alto, Stanford University School of Medicine, Palo Alto, California, USA.
authors.forename: Tonya
authors.initials: T
authors.lastname: Kaltenbach
authors.affiliation: Kaiser Permanente Medical Center, Walnut Creek, California, USA.
authors.forename: T R
authors.initials: TR
authors.lastname: Levin
authors.affiliation: Oregon Health and Science University, Portland, Oregon, USA.
authors.forename: David
authors.initials: D
authors.lastname: Lieberman
authors.affiliation: VA Medical Center, White River Junction, Vermont, USA.|Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.
authors.forename: Douglas J
authors.initials: DJ
authors.lastname: Robertson
authors.affiliation: Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Douglas K
authors.initials: DK
authors.lastname: Rex
mesh_terms: D000483:Alleles; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D011159:Population Surveillance / Q000379:methods*