1. ERCC2 mutation mapping and distribution across tumor types.
ERCC2 mutation mapping and distribution across tumor types. A, a stick plot of ERCC2 showing the locations of somatic mutations in the responders compared with ERCC2 mutations observed in two separate unselected bladder cancer exome cohorts. The ERCC2 mutations cluster within or near conserved helicase motifs. B, the somatic ERCC2 mutation frequency in multiple tumor types from TCGA. SCC, squamous cell carcinoma. C, structure of an archaebacterial ERCC2 (PDB code, 3CRV) with mutations identified in the responder cohort mapped to their equivalent position. These locations are shown in the context of canonical germline ERCC2 mutations responsible for XP, XP/Cockayne syndrome (CS), and trichothiodystrophy (TTD).
Eliezer M. Van Allen et al. Cancer Discovery 2014;4:
©2014 by American Association for Cancer Research