Article
Mechanisms and therapeutic implications of hypermutation in gliomas.
Nature - 1 Apr 2020
Touat Mehdi, Li Yvonne Y, Boynton Adam N, Spurr Liam F, Iorgulescu J Bryan, Bohrson Craig L, Cortes-Ciriano Isidro, Birzu Cristina, Geduldig Jack E, Pelton Kristine, Lim-Fat Mary Jane, Pal Sangita, Ferrer-Luna Ruben, Ramkissoon Shakti H, Dubois Frank, Bellamy Charlotte, Currimjee Naomi, Bonardi Juliana, Qian Kenin, Ho Patricia, Malinowski Seth, Taquet Leon, Jones Robert E, Shetty Aniket, Chow Kin-Hoe, Sharaf Radwa, Pavlick Dean, Albacker Lee A, Younan Nadia, Baldini Capucine, Verreault Maïté, Giry Marine, Guillerm Erell, Ammari Samy, Beuvon Frédéric, Mokhtari Karima, Alentorn Agusti, Dehais Caroline, Houillier Caroline, Laigle-Donadey Florence, Psimaras Dimitri, Lee Eudocia Q, Nayak Lakshmi, McFaline-Figueroa J Ricardo, Carpentier Alexandre, Cornu Philippe, Capelle Laurent, Mathon Bertrand, Barnholtz-Sloan Jill S, Chakravarti Arnab, Bi Wenya Linda, Chiocca E Antonio, Fehnel Katie Pricola, Alexandrescu Sanda, Chi Susan N, Haas-Kogan Daphne, Batchelor Tracy T, Frampton Garrett M, Alexander Brian M, Huang Raymond Y, Ligon Azra H, Coulet Florence, Delattre Jean-Yves, Hoang-Xuan Khê, Meredith David M, Santagata Sandro, Duval Alex, Sanson Marc, Cherniack Andrew D, Wen Patrick Y, Reardon David A, Marabelle Aurélien, Park Peter J, Idbaih Ahmed, Beroukhim Rameen, Bandopadhayay Pratiti, Bielle Franck, Ligon Keith L
Abstract excerpt
A high tumour mutational burden (hypermutation) is observed in some gliomas1-5; however, the mechanisms by which hypermutation develops and whether it predicts the response to immunotherapy are poorly understood. Here we comprehensively analyse the molecular determinants of mutational burden and signatures in 10,294 gliomas. We delineate two main pathways to hypermutation: a de novo pathway associated with...
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