FIG 2.

Mutation profile analysis of the corneal and conjunctival primary tumors, along with their parotid lymph node metastases (Met), was performed on identified somatic single nucleotide variants.¹⁹ (A) All four tumors show mutation patterns consistent with base excision repair deficiency (Catalogue of Somatic Mutations in Cancer mutation signature 7). (B) Analysis of mutation signatures based on the transcribed gene strand shows a strong bias of C>T mutations on the untranscribed strand (1,683 v 348 mutations on the transcribed strand), consistent with the transcription-coupled nature of the nucleotide excision repair pathway. (C) Comparison and set overlap of somatic variants identified in four sequenced samples reveals two unrelated primary tumors (corneal and conjunctival), each with unique metastases to the parotid lymph nodes. (*) P < .01. (†) P < .001.