Catálogo de publicaciones - revistas
Genes, Chromosomes and Cancer
Resumen/Descripción – provisto por la editorial
No disponible.
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Disponibilidad
Institución detectada | Período | Navegá | Descargá | Solicitá |
---|---|---|---|---|
No detectada | desde ene. 1989 / hasta dic. 2023 | Wiley Online Library |
Información
Tipo de recurso:
revistas
ISSN impreso
1045-2257
ISSN electrónico
1098-2264
País de edición
Estados Unidos
Cobertura temática
Tabla de contenidos
doi: 10.1002/gcc.23015
Mismatch repair deficiency: The what, how and why it is important
Maria C. Olave; Rondell P. Graham
<jats:title>Abstract</jats:title><jats:p>The mismatch repair system is a major pathway that functions in the maintenance of genomic integrity. It is involved in mitotic and meiotic recombination, apoptosis, immunoglobulin gene rearrangement, somatic hypermutation, and other processes. Deficiencies in mismatch repair give rise to hypermutability and the phenomenon called microsatellite instability. Detection of deficient mismatch repair function or microsatellite instability is used diagnostically, predictively, and prognostically. Specifically, deficient mismatch repair function is used for screening of Lynch syndrome, determining patients who are likely to respond to immune checkpoint inhibition, and to contributes to an understanding of which cancer patients may pursue a more aggressive clinical course. Microsatellite instability can be evaluated directly by polymerase chain reaction (PCR) or indirectly by assessment of mismatch repair protein expression using immunohistochemistry (IHC), and mismatch repair function using next‐generation sequencing assays which evaluates homopolymer indels. In this article, we provide a concise practical review on mismatch repair deficiency (MMR‐d)/microsatellite instability (MSI), focusing on clinical testing, different testing methods, interpretation of findings, the predictive, and prognostic utility of MSI.</jats:p>
Pp. 314-321