Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy

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doi:10.1016/j.ccell.2023.12.001

Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy

Elias Bou Farhat & Amin H. Nassar et al. · 2023-12-28

10Citations

Immunohistochemistry (IHC) is currently the first-line test for mismatch repair deficiency (MMR-D). Bou Farhat et al. show that mismatch repair (MMR) mutation signature by next-generation sequencing is a highly sensitive assay capable of detecting MMR-D cases that are missed in 1% and 5% of patients with MMR-D colorectal cancer (CRC) and endometrial cancer (EC), respectively. Patients with MMR-D tumors missed by IHC have similar clinical outcomes to patients with MMR-D by both IHC and mutation signature.

Links

DOI PubMed

Journal

Cancer Cell

TL;DR

It is shown that mismatch repair (MMR) mutation signature by next-generation sequencing is a highly sensitive assay capable of detecting MMR-D cases that are missed in 1% and 5% of patients with MMR-D colorectal cancer and endometrial cancer, respectively.

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Authors

Elias Bou Farhat, Elio Adib, Melissa Daou, Elizabeth P. Henske, Abdul Rafeh Naqash, Ursula Matulonis, Kimmie Ng, David J. Kwiatkowski, Lynette M. Sholl, Amin H. Nassar