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Role of DNA Mismatch Repair Genes in Colorectal Cancer

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Colon Cancer Diagnosis and Therapy

Abstract

Colorectal cancer (CRC) is the third most known type of cancer in developing countries and is one of the leading causes of deaths around the world. The current treatment therapies for CRC are increasing nowadays since there are large variations seen among individuals in terms of diagnosis and response to drugs used to manage CRC owing to biomolecular heterogeneity. Around 15% of CRC cases are due to defect in the DNA mismatch repair (MMR) system, featured by microsatellite instability (MSI) characteristics. We highliht the role of DNA mismatch repair genes in CRC, its diagnosis and management including targeted therapies and immune checkpoint blockade therapies for controlling the individual CRC therapy response and treatment.

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Abbreviations

5-FU:

5-Fluorouracil

CRC:

Colorectal cancer

HNPCC:

Hereditary non-polyposis colorectal cancer

MLH1:

MutL homolog 1

MLH3:

MutL homolog 3

MMR:

Mismatch repair

MSH2:

MutS homolog 2

MSH6:

MutS homolog 6

MSI:

Microsatellite instability

MSI-high:

Microsatellite instability-high

MSI-low:

Microsatellite instability-low

MSS:

Microsatellite stable

PCNA:

Proliferating cell nuclear antigen

PD-L1:

Programmed death ligand-1 protein

PMS1:

PMS homolog 1

PMS2:

PMS homolog 2

RFC:

Replication factor C

RPA:

Replication protein A

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Gupta, S., Mathur, M., Miao, B., Suravajhala, P., Bandapalli, O.R. (2021). Role of DNA Mismatch Repair Genes in Colorectal Cancer. In: Vishvakarma, N.K., Nagaraju, G.P., Shukla, D. (eds) Colon Cancer Diagnosis and Therapy. Springer, Cham. https://doi.org/10.1007/978-3-030-64668-4_10

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