XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Indeed, transcriptional strand bias in XP-C was strong and highly significant for all six classes of nucleotide substitutions grouped by the reference and mutated nucleotide, while in tissue-matched sporadic cancers it was weak or absent (Fig. 3a−c, e and Supplementary Fig. 3a−c ).

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