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Molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)
Diagnóstico molecular del cáncer colorrectal no polipósico hereditario (síndrome de Lynch)
Palabras clave:
Colorectal Cancer, Hereditary Cancer, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch Syndrome, Immunohistochemistry, Microsatellite Instability (en)Cáncer colorrectal, Síndrome de Lynch, Inmunohistoquímica (es)
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Lynch syndrome is the most common cause of inherited colorectal cancer, totaling 5 to 8% of all the cases with high susceptibility to this type of cancer and extracolonic cancer. It is related to germinal mutations taking place at mismatch repair genes. The diagnosis of Lynch syndrome is essential for both monitoring patients with this disease and detecting asymptomatic carriers, in order to establish appropriate clinical monitoring, preventive management and genetic counseling
Although clinical criteria have been standardized by implementing Amsterdam I and II, as well as Bethesda guidelines, the detection rate of mutations in these genes only varies between 20% and 60%.
The objective of this research was to review the state of the art regarding molecular diagnosis of Lynch syndrome; thus, a review of the literature published from 1995 to 2015 in PubMed database was performed by using the criteria “lynch syndrome molecular screening”. 19 articles were selected and reviewed, and the relevant bibliography related to such articles was also reviewed.
This paper presents different approaches proposed by several researchers on molecular algorithms to improve the efficiency of Lynch syndrome diagnosis.
El síndrome de Lynch es la causa más frecuente de cáncer colorectal (CCR) hereditario y representa el 5-8% de los casos con alta susceptibilidad a CCR y cánceres extracolónicos. Este síndrome se relaciona con mutaciones germinales en genes de reparación de malos apareamientos (MMR); su diagnóstico es fundamental, tanto para el seguimiento de los afectados como para la detección de portadores asintomáticos, y tiene el propósito de instaurar un adecuado seguimiento, un manejo preventivo y un asesoramiento genético. Si bien los criterios clínicos han sido estandarizados con la implementación de las guías de Amsterdam I y II y Bethesda, la tasa de detección de mutaciones en estos genes solo varía entre 20% y 60%.
El objetivo de esta investigación fue revisar el estado del arte con relación al diagnóstico molecular del síndrome de Lynch, para lo cual se realizó una revisión de la literatura publicada entre 1995 y 2015 en la base de datos PubMed usando como criterio de revisión: “Lynch syndrome molecular screening”. Se escogieron y revisaron 19 artículos y además se revisó y escogió la bibliografía pertinente de los artículos.
Se presentan propuestas de varios autores sobre los algoritmos moleculares para mejorar la eficiencia del diagnóstico del síndrome de Lynch.
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Derechos de autor 2017 Revista de la Facultad de Medicina
Esta obra está bajo una licencia Creative Commons Reconocimiento 3.0 Unported.
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