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Genes, Chromosomes and Cancer

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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

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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