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Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Paula RofesNúria DueñasJesús Del ValleMatilde NavarroJudith BalmañaTeresa Ramón Y CajalNoemí TusetCarmen CastilloSara GonzálezJoan BrunetGabriel CapelláConxi LázaroMarta Pineda
Published in: Cancer medicine (2024)
More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.
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