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. 2020 Mar 26;8(1):e000319. doi: 10.1136/jitc-2019-000319

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See http://creativecommons.org/licenses/by-nc/4.0/.

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Mutations in DNA damage repair pathway genes identified in patients with metastatic renal cell carcinoma (mRCC) grouped by best response to immune checkpoint inhibitors (ICIs). The DNA repair genes identified were: BLM, MDM2, PTEN, TP53, TP53BP1, BRCA2, FAM175A, FANCA, FANCB, FANCM, MSH3, MSH6, RAD50, RAD51C, RAD51D, RAD54B, RECQL4 and SLX4. In the disease control (DC) group, 81.3% of patients were found to have at least one mutation in a DNA damage response pathway gene compared with only 50% of patients in the progressive disease (PD) group.