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
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Published in |
American Journal of Gastroenterology, March 2017
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DOI | 10.1038/ajg.2017.105 |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 2 | 33% |
United Kingdom | 1 | 17% |
United States | 1 | 17% |
Unknown | 2 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 3 | 50% |
Members of the public | 3 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 41 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 6 | 15% |
Researcher | 6 | 15% |
Other | 4 | 10% |
Student > Ph. D. Student | 3 | 7% |
Student > Postgraduate | 2 | 5% |
Other | 5 | 12% |
Unknown | 15 | 37% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 20% |
Biochemistry, Genetics and Molecular Biology | 5 | 12% |
Unspecified | 3 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 5% |
Nursing and Health Professions | 1 | 2% |
Other | 5 | 12% |
Unknown | 17 | 41% |