Fig. 1: Mutational load and profiles of XP-C and 190 tissue-matched sporadic cancers. | Nature Communications

Fig. 1: Mutational load and profiles of XP-C and 190 tissue-matched sporadic cancers.

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

Fig. 1

a Number of SBS (single base substitutions), DBS (double base substitutions) and ID (indels) in XP-C and sporadic cancers with indicated SEM intervals. The difference is highly significant for myeloid neoplasms (Mann–Whitney U test, two-sided, n = 6 for XP-C and n = 65 for myeloid neoplasms), but number of mutations in breast sarcoma (n = 1) and rhabdomyosarcoma (n = 1) are in the range of sporadic tumors (n = 91 and n = 34 for breast cancer and sarcoma respectively). b Multidimension scaling plot based on the Cosine similarity distance between the mutational profiles of the samples. XP-C tumors clearly groups together and are distant from tissue-matched sporadic cancers. c Trinucleotide-context mutational profiles (SEM intervals are shown in case of multiple samples, n represents the number of independent cancer samples). An x-axis represents the nucleotides upstream and downstream of mutation. XP-C tumors demonstrate high similarity with each other (left panel), but profiles of sporadic cancers (right panel) are different from them.

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