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.
Gastroenterology
; 152(6): 1605-1614, 2017 05.
Article
en En
| MEDLINE
| ID: mdl-28363489
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndromes Neoplásicos Hereditarios
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Neoplasias Encefálicas
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Neoplasias Colorrectales
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Vigilancia de la Población
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Neoplasias Urológicas
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Neoplasias Endometriales
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Neoplasias Hepáticas
Tipo de estudio:
Guideline
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Prognostic_studies
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Screening_studies
Límite:
Female
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Humans
Idioma:
En
Revista:
Gastroenterology
Año:
2017
Tipo del documento:
Article