Article

Long deletion signatures in repetitive genomic regions track somatic evolution and enable sensitive detection of microsatellite instability

2024-10-04

Abstract excerpt

Deficiency in the mismatch repair system (MMRd) causes microsatellite instability (MSI) in cancers and determines eligibility for immunotherapy. Here, we show that MMRd tumours harbour long-deletion signatures (≥2-5+ base pairs deleted in repetitive regions), which provide new insights into MSI evolution and enable sensitive MSI detection particularly in challenging clinical samples. Long deletions, accumulated th...

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Identifiers and source

Literature Corpus work: 771bfb19-838f-5c1b-8613-5e1959207dcc
DOI: 10.1101/2024.10.03.616572

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