Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Das, Anirban; Sudhaman, Sumedha; A. Morgenstern, Daniel; Coblentz, Ailish; Chung, Jiil; C. Stone, Simone; Alsafwani, Noor; Amy Liu, Zhihui; Abu Al Karsaneh, Ola; Soleimani, Shirin; Ladany, Hagay; Chen, David; Zatzman, Matthew; Cabric, Vanja; Nobre, Liana; Bianchi, Vanessa; Edwards, Melissa; Nahum Lauren C, Sambira; B. Ercan, Ayse; Nabbi, Arash; Constantini, Shlomi; Dvir, Rina; Yalon-Oren, Michal; Abebe‐Campino, Gadi; Caspi, Shani; Larouche, Valérie; Reddy, Alyssa; Osborn, Michael; Mason, Gary; Lindhorst, Scott; Bronsema, Annika; Magimairajan, Vanan; Opocher, Enrico; Loret De Mola, Rebecca; Sabel, Magnus; A. Frojd, Charlotta; Sumerauer, David; Samuel, David; A. Cole, Kristina; Chiaravalli, Stefano; Massimino, Maura; Tomboc, Patrick; S. Ziegler, David; George, Ben; Van Damme, An; Hijiya, Nobuko; Gass, David; B. McGee, Rose; Mordechai, Oz; C. Bowers, Daniel; W. Laetsch, Theodore; Lossos, Alexander; T. Blumenthal, Deborah; Sarosiek, Tomasz; Yi Yen, Lee; Knipstein, Jeffrey; Bendel, Anne; M. Hoffman, Lindsey; Luna‐Fineman, Sandra; Zimmermann, Stefanie; Scheers, Isabelle; E. Nichols, Kim; Zápotocký, Michal; R. Hansford, Jordan; M. Maris, John; B. Dirks, Peter; D. Taylor, Michael; V. Kulkarni, Abhaya; Shroff, Manohar; S. Tsang, Derek; Villani, Anita; Xu, Wei; Aronson, Melyssa; Durno, Carol; Shlien, Adam; Malkin, David; Getz, Gad; E. Maruvka, Yosef; S. Ohashi, Pamela; Hawkins, Cynthia; J. Pugh, Trevor; Bouffet, Éric; Tabori, Uri

doi:10.1038/s41591-021-01581-6

Public

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Published in Nature Medicine • Jan 1, 2022

Authors:

Anirban Das

Sumedha Sudhaman

Daniel A. Morgenstern

Abstract

Cancers arising from germline DNA mismatch repair deficiency or polymerase proofreading deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite insertion-deletion (MS-indel) burden in humans. MMRD and PPD cancers are commonly lethal due to the inherent resistance to c...

Subject

Indel

DNA mismatch repair

Germline mutation

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