Journal ArticleDOI
MBD4 inactivation induces a new mutator phenotype in cancers
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This article is published in Bulletin Du Cancer.The article was published on 2018-07-19. It has received 0 citations till now. The article focuses on the topics: Mutation (genetic algorithm).read more
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Journal ArticleDOI
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade
Dung T. Le,Dung T. Le,Jennifer N. Durham,Jennifer N. Durham,Kellie N. Smith,Hao Wang,Bjarne Bartlett,Bjarne Bartlett,Laveet K. Aulakh,Laveet K. Aulakh,Steve Lu,Steve Lu,Holly Kemberling,Cara Wilt,Brandon Luber,Fay Wong,Fay Wong,Nilofer S. Azad,Agnieszka A. Rucki,Daniel A. Laheru,Ross C. Donehower,Atif Zaheer,George A. Fisher,Todd S. Crocenzi,James J. Lee,Tim F. Greten,Austin G. Duffy,Kristen K. Ciombor,Aleksandra Eyring,Bao H. Lam,Andrew K. Joe,S. Peter Kang,Matthias Holdhoff,Ludmila Danilova,Leslie Cope,Christian F. Meyer,Shibin Zhou,Shibin Zhou,Richard M. Goldberg,Deborah K. Armstrong,Katherine M. Bever,Amanda N. Fader,Janis M. Taube,Franck Housseau,David Spetzler,Nianqing Xiao,Drew M. Pardoll,Nickolas Papadopoulos,Nickolas Papadopoulos,Kenneth W. Kinzler,Kenneth W. Kinzler,James R. Eshleman,Bert Vogelstein,Bert Vogelstein,Robert A. Anders,Robert A. Anders,Luis A. Diaz,Luis A. Diaz +57 more
TL;DR: Evaluating the efficacy of PD-1 blockade in patients with advanced mismatch repair–deficient cancers across 12 different tumor types showed that colorectal cancers with mismatch repair deficiency were sensitive to immune checkpoint blockade with antibodies to programmed death receptor–1 (PD-1).
Journal ArticleDOI
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
Manuel Rodrigues,Lenha Mobuchon,Alexandre Houy,Alice Fiévet,Sophie Gardrat,Raymond L. Barnhill,Raymond L. Barnhill,Tatiana Popova,Vincent Servois,Aurore Rampanou,Aurore Mouton,Stéphane Dayot,Virginie Raynal,Michèle Galut,Marc Putterman,Sarah Tick,Nathalie Cassoux,Nathalie Cassoux,Sergio Roman-Roman,François-Clément Bidard,François-Clément Bidard,Olivier Lantz,Pascale Mariani,Sophie Piperno-Neumann,Marc-Henri Stern +24 more
TL;DR: A new hypermutated phenotype due to germline mutations and subsequent somatic loss of heterozygosity of MBD4 is described, and a dramatic response to the PD-1 inhibitor pembrolizumab in a patient with a MBD 4-inactivatedHypermutated uveal melanoma is presented.
Posted ContentDOI
Germline loss of MBD4 predisposes to leukaemia due to a mutagenic cascade driven by 5mC
Mathijs A. Sanders,Edward Chew,Christoffer Flensburg,Annelieke Zeilemaker,Sarah E. Miller,al Hinai As,Ashish Bajel,Bram Luiken,Melissa Rijken,Tamara J. McLennan,Remco Hoogenboezem,François G. Kavelaars,Marnie E. Blewitt,Eric M.J. Bindels,Warren S. Alexander,Bob Löwenberg,Andrew W. Roberts,Peter J. M. Valk,Ian J. Majewski +18 more
TL;DR: A novel cancer predisposition syndrome resulting from germline biallelic inactivation of MBD4 that leads to the development of acute myeloid leukaemia (AML), and a critical interaction with somatic mutations in DNMT3A that accelerates leukaemogenesis and accounts for the conserved path to AML is highlighted.
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Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
Manuel Rodrigues,Lenha Mobuchon,Alexandre Houy,Alice Fiévet,Sophie Gardrat,Raymond L. Barnhill,Raymond L. Barnhill,Tatiana Popova,Vincent Servois,Aurore Rampanou,Aurore Mouton,Stéphane Dayot,Virginie Raynal,Michèle Galut,Marc Putterman,Sarah Tick,Nathalie Cassoux,Nathalie Cassoux,Sergio Roman-Roman,François-Clément Bidard,François-Clément Bidard,Olivier Lantz,Pascale Mariani,Sophie Piperno-Neumann,Marc-Henri Stern +24 more