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. 2019 May 14;9:395. doi: 10.3389/fonc.2019.00395

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Copyright © 2019 Canto, Larsen, Catin Kupper, Begnami, Scapulatempo-Neto, Petersen, Aagaard, Baumbach, Aguiar and Rogatto.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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(A) Distribution of the Genomic Instability Index (GII) and (B) the number of mutations found in rectal cancer samples according to pathological response (pCR: complete response or pIR: incomplete) to neoadjuvant chemoradiotherapy. Cases were also categorized into tumor regression grade (TRG) and grouped in TRG 0 + 1 and TRG 2 + 3. (C) Homologous recombination deficiency scores (LST, LOH, and tAI) and GII of samples with mutation in DNA repair genes. (D) GII of each TCGA and internal cases carrying mutation in DNA damage repair pathways (homologous recombination and mismatch repair) genes. Samples carrying mutation in the same gene are shown connected by a line, additional genes are shown below each sample. Samples with >1000 mutations are indicated, and specific genes were not taken into consideration for these cases. Five of 14 cases from TCGA with mutation in ATM presented >1000 mutations, and nine of them are represented.