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. Author manuscript; available in PMC: 2018 Jul 20.
Published in final edited form as: Nat Rev Clin Oncol. 2016 Nov 22;14(4):221–234. doi: 10.1038/nrclinonc.2016.188

Table 6 |.

Mutations in DNA-repair genes in predicting response to NACT

Study characteristics Van Allen et al.113 Plimack et al.114
Number of patients 50

  • Discovery cohort: 34

  • Validation cohort: 24
TNM stage selection criteria pT2–T4cN0–1M0 pT2–T4cN0–1M0
Pathological response end points pT0/pTis versus ≥pT2

  • pT0pN0cM0 versus >pT0pN0cM0

  • ≤pT1pN0cM0 versus >pT1pN0cM0
NACT GC, ddMVAC, GC-sunitinib, or ddGC ddMVAC and ddGC
DNA-profiling technique WES NGS of 287 cancer-related genes
Findings ERCC2 mutations enriched in responders to NACT compared with nonresponders (P <0.001; q <0.007), and associated with increased mutational load (15.5 versus 5.1 mutations per Mb; P = 0.01) ATM/RB1/FANCC alterations predict response to NACT (P < 0.001 discovery; P = 0.033 validation)
Functional validation ERCC2-deficient cell lines have increased sensitivity to cisplatin NA

ddGC, dose-dense gemcitabine and cisplatin; ddMVAC, dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin; GC, gemcitabine and cisplatin; MIBC, muscle-invasive bladder cancer; NA, not applicable; NACT, neoadjuvant chemotherapy; NGS, next-generation sequencing; WES, whole-exome sequencing.