The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology, Cancer Research, vol.73, issue.14, pp.4372-4382, 2013. ,
DOI : 10.1158/0008-5472.CAN-12-3342
Human Pol ??-dependent replication errors and the influence of mismatch repair on their correction, DNA Repair, vol.12, issue.11, pp.954-963, 2013. ,
DOI : 10.1016/j.dnarep.2013.08.012
Mismatch Repair???Independent Increase in Spontaneous Mutagenesis in Yeast Lacking Non-Essential Subunits of DNA Polymerase ??, PLoS Genetics, vol.278, issue.11, pp.2112494-2112502, 2010. ,
DOI : 10.1371/journal.pgen.1001209.s002
DNA polymerase ?? and ?? proofreading suppress discrete mutator and cancer phenotypes in mice, Proceedings of the National Academy of Sciences, vol.273, issue.13, pp.17101-17104, 2009. ,
DOI : 10.1111/j.1742-4658.2006.05310.x
Deciphering Signatures of Mutational Processes Operative in Human Cancer, Cell Reports, vol.3, issue.1, pp.246-259, 2013. ,
DOI : 10.1016/j.celrep.2012.12.008
Signatures of mutational processes in human cancer, Nature, vol.27, issue.7463, pp.415-421, 2013. ,
DOI : 10.1093/bioinformatics/btr354
Mutational signatures: the patterns of somatic mutations hidden in cancer genomes, Current Opinion in Genetics & Development, vol.24, pp.52-60, 2014. ,
DOI : 10.1016/j.gde.2013.11.014
Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2-MSH6 complex, Nucleic Acids Research, vol.33, issue.4, pp.1410-1419, 2005. ,
DOI : 10.1093/nar/gki291
Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy, DNA Repair, vol.56, pp.16-25, 2017. ,
DOI : 10.1016/j.dnarep.2017.06.003
Rev3, the catalytic subunit of Pol??, is required for maintaining fragile site stability in human cells, Nucleic Acids Research, vol.25, issue.4, pp.2328-2339, 2013. ,
DOI : 10.1038/sj.emboj.7601251
Molecular analysis of mutations in mutator colorectal carcinoma cell lines, Human Molecular Genetics, vol.4, issue.11, pp.2057-2064, 1995. ,
DOI : 10.1093/hmg/4.11.2057
Microsatellite Instability in Colorectal Cancer, Gastroenterology, vol.138, issue.6, pp.2073-2087, 2010. ,
DOI : 10.1053/j.gastro.2009.12.064
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency, Journal of Clinical Oncology, vol.34, issue.19, pp.2206-2211, 2016. ,
DOI : 10.1200/JCO.2016.66.6552
Germline and somatic polymerase ?? and ?? mutations define a new class of hypermutated colorectal and endometrial cancers, The Journal of Pathology, vol.202, issue.2, pp.148-153, 2013. ,
DOI : 10.1016/0022-2836(88)90552-9
Comprehensive Analysis of Hypermutation in Human Cancer, Cell, vol.171, issue.5, pp.1042-1056, 2017. ,
DOI : 10.1016/j.cell.2017.09.048
Oxidative stress inactivates the human DNA mismatch repair system, American Journal of Physiology-Cell Physiology, vol.266, issue.1, p.12055083, 2001. ,
DOI : 10.1006/abbi.1995.1225
DNA polymerase ?? and ?? exonuclease domain mutations in endometrial cancer, Human Molecular Genetics, vol.11, issue.14, pp.2820-2828, 2013. ,
DOI : 10.1186/gb-2010-11-8-r86
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples, Nature Biotechnology, vol.27, issue.3, pp.213-219, 2013. ,
DOI : 10.1093/bioinformatics/btr446
Normally lethal amino acid substitutions suppress an ultramutator DNA Polymerase d variant Scientific Reports 7:46535. DOI: https, p.28417960, 2017. ,
A constant rate of spontaneous mutation in DNA-based microbes., Proceedings of the National Academy of Sciences, vol.88, issue.16, pp.7160-7164, 1991. ,
DOI : 10.1073/pnas.88.16.7160
Contrasting mutation rates from specific-locus and long-term mutation-accumulation procedures DOI: https, G3: Genes|Genomes|Genetics, vol.2, pp.483-485, 2012. ,
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome, Journal of Pediatric Gastroenterology and Nutrition, vol.64, issue.5, pp.1605-1614, 2017. ,
DOI : 10.1097/MPG.0000000000001578
Mutants in the Exo I motif of Escherichia coli dnaQ: defective proofreading and inviability due to error catastrophe., Proceedings of the National Academy of Sciences, vol.93, issue.7, pp.2856-2861, 1996. ,
DOI : 10.1073/pnas.93.7.2856
Exploring the implications of distinct mutational signatures and mutation rates in aging and cancer, Genome Medicine, vol.109, issue.1, p.26987311, 2016. ,
DOI : 10.1073/pnas.1208715109
Down-regulation of DNA mismatch repair proteins in human and murine tumor spheroids: implications for multicellular resistance to alkylating agents, Molecular Cancer Therapeutics, vol.4, issue.10, pp.1484-1494, 2005. ,
DOI : 10.1158/1535-7163.MCT-04-0214
Yeast DNA Polymerase ?? Catalytic Core and Holoenzyme Have Comparable Catalytic Rates, Journal of Biological Chemistry, vol.19, issue.6, pp.3825-3835, 2015. ,
DOI : 10.1038/nsmb.2851
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects, Carcinogenesis, vol.18, issue.1, pp.1-8, 1997. ,
DOI : 10.1093/carcin/18.1.1
Defective DNA polymerase-?? proofreading causes cancer susceptibility in mice, Nature Medicine, vol.80, issue.6, pp.638-639, 2001. ,
DOI : 10.1002/(SICI)1097-0215(19990315)80:6<919::AID-IJC19>3.0.CO;2-U
Nonlinear partial differential equations and applications: High incidence of epithelial cancers in mice deficient for DNA polymerase ?? proofreading, Proceedings of the National Academy of Sciences, vol.104, issue.3, pp.15560-15565, 2002. ,
DOI : 10.1016/S0092-8674(01)00220-3
Relationship between Gene Body DNA Methylation and Intragenic H3K9me3 and H3K36me3 Chromatin Marks, PLoS ONE, vol.28, issue.4, p.21526191, 2011. ,
DOI : 10.1371/journal.pone.0018844.s006
URL : http://doi.org/10.1371/journal.pone.0018844
Hallmarks of Cancer: The Next Generation, Cell, vol.144, issue.5, pp.646-674, 2011. ,
DOI : 10.1016/j.cell.2011.02.013
Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair, Cell, vol.164, issue.3, pp.538-549, 2016. ,
DOI : 10.1016/j.cell.2015.12.050
Variation in efficiency of DNA mismatch repair at different sites in the yeast genome, Proceedings of the National Academy of Sciences, vol.19, issue.7, pp.8639-8643, 2005. ,
DOI : 10.1093/oxfordjournals.molbev.a004176
Replicative DNA polymerase mutations in cancer, Current Opinion in Genetics & Development, vol.24, pp.107-113, 2014. ,
DOI : 10.1016/j.gde.2013.12.005
Mechanisms underlying mutational signatures in human cancers, Nature Reviews Genetics, vol.96, issue.9, pp.585-598, 2014. ,
DOI : 10.1038/nrc2998
DNA polymerase ?? and its roles in genome stability, IUBMB Life, vol.74, issue.5, pp.339-351, 2014. ,
DOI : 10.1158/0008-5472.CAN-13-2892
Mutator suppression and escape from replication error-induced extinction in yeast, PLoS Genetics, vol.7, p.22022273, 2011. ,
Antimutator variants of DNA polymerases, Critical Reviews in Biochemistry and Molecular Biology, vol.131, issue.6, pp.548-570, 2011. ,
DOI : 10.1073/pnas.062502299
Tumor-specific microsatellite instability: do distinct mechanisms underlie the MSI-L and EMAST phenotypes? Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 743-744, pp.67-77, 2013. ,
Improved Survival with Ipilimumab in Patients with Metastatic Melanoma, New England Journal of Medicine, vol.363, issue.8, pp.711-723, 2010. ,
DOI : 10.1056/NEJMoa1003466
Visualization of Eukaryotic DNA Mismatch Repair Reveals Distinct Recognition and Repair Intermediates, Cell, vol.147, issue.5, pp.1040-1053, 2011. ,
DOI : 10.1016/j.cell.2011.10.025
Acidic tumor microenvironment downregulates hMLH1 but does not diminish 5-fluorouracil chemosensitivity Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 747-748, pp.19-27, 2013. ,
Rates and mechanisms of bacterial mutagenesis from maximum-depth sequencing, Nature, vol.85, issue.7609, pp.693-696, 2016. ,
DOI : 10.1007/BF00120324
Postreplicative mismatch repair. Cold Spring Harbor Perspectives in Biology 5:a012633. DOI: https, p.23545421, 2013. ,
Integrated genomic characterization of endometrial carcinoma, Cancer Genome Atlas Research Network Nature, vol.497, pp.67-73, 2013. ,
A Common Cancer-Associated DNA Polymerase ?? Mutation Causes an Exceptionally Strong Mutator Phenotype, Indicating Fidelity Defects Distinct from Loss of Proofreading, Cancer Research, vol.74, issue.7, pp.1895-1901, 2014. ,
DOI : 10.1158/0008-5472.CAN-13-2892
Volatility of Mutator Phenotypes at Single Cell Resolution, PLOS Genetics, vol.40, issue.4, p.25868109, 2015. ,
DOI : 10.1371/journal.pgen.1005151.s012
The high fidelity and unique error signature of human DNA polymerase ??, Nucleic Acids Research, vol.19, issue.3, pp.1763-1773, 2011. ,
DOI : 10.1128/MCB.19.3.2000
DNA MISMATCH REPAIR, Annual Review of Biochemistry, vol.74, issue.1, pp.681-710, 2005. ,
DOI : 10.1146/annurev.biochem.74.082803.133243
Is Inhibited by Adriamycin, Actinomycin D, and Nogalamycin, Journal of Biological Chemistry, vol.45, issue.13, pp.9775-9783, 2001. ,
DOI : 10.1016/S0092-8674(00)81621-9
URL : http://www.jbc.org/content/276/13/9775.full.pdf
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency, New England Journal of Medicine, vol.372, issue.26, pp.2509-2520, 2015. ,
DOI : 10.1056/NEJMoa1500596
Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing, Proceedings of the National Academy of Sciences, vol.26, issue.8, p.22991466, 2012. ,
DOI : 10.1016/j.tig.2010.05.003
Mechanisms and functions of DNA mismatch repair, Cell Research, vol.62, issue.1, pp.85-98, 2008. ,
DOI : 10.1126/science.7761852
Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, vol.9, issue.11, pp.1754-1760, 2009. ,
DOI : 10.1186/1471-2105-9-128
Toward better understanding of artifacts in variant calling from high-coverage samples, Bioinformatics, vol.32, issue.20, pp.2843-2851, 2014. ,
DOI : 10.1038/nbt.2835
Silencing of the DNA Mismatch Repair Gene MLH1 Induced by Hypoxic Stress in a Pathway Dependent on the Histone Demethylase LSD1, Cell Reports, vol.8, issue.2, pp.501-513, 2014. ,
DOI : 10.1016/j.celrep.2014.06.035
Mismatch Repair Balances Leading and Lagging Strand DNA Replication Fidelity, PLoS Genetics, vol.8, issue.10, p.23071460, 2012. ,
DOI : 10.1371/journal.pgen.1003016.s006
Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition, Genome Research, vol.115, issue.11, pp.1751-1764, 2014. ,
DOI : 10.1534/genetics.110.120105
Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review, Gastroenterology, vol.104, issue.5, pp.1535-15490016, 1993. ,
DOI : 10.1016/0016-5085(93)90368-M
Rate, molecular spectrum, and consequences of human mutation, Proceedings of the National Academy of Sciences, vol.416, issue.6881, pp.961-968, 2010. ,
DOI : 10.1038/416624a
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data, Genome Research, vol.20, issue.9, pp.1297-1303, 2010. ,
DOI : 10.1101/gr.107524.110
Colon cancer-associated mutator DNA polymerase ?? variant causes expansion of dNTP pools increasing its own infidelity, Proceedings of the National Academy of Sciences, vol.122, issue.1, pp.2467-2476, 2015. ,
DOI : 10.1073/pnas.0914857107
Decreased Expression of the DNA Mismatch Repair Gene Mlh1 under Hypoxic Stress in Mammalian Cells, Molecular and Cellular Biology, vol.23, issue.9, pp.3265-3273, 2003. ,
DOI : 10.1128/MCB.23.9.3265-3273.2003
Mechanisms in Eukaryotic Mismatch Repair, Journal of Biological Chemistry, vol.18, issue.41, pp.30305-30309, 1074. ,
DOI : 10.1016/j.cell.2006.05.039
Eukaryotic DNA polymerase amino acid sequence required for 3'----5' exonuclease activity., Proceedings of the National Academy of Sciences, vol.88, issue.21, pp.9473-9477, 1991. ,
DOI : 10.1073/pnas.88.21.9473
Pathway correcting DNA replication errors in Saccharomyces cerevisiae, The EMBO journal, vol.12, pp.1467-1473, 1993. ,
The 3? ? 5? exonucleases of both DNA polymerases ? and ? participate in correcting errors of DNA replication in Saccharomyces cerevisiae, MGG Molecular & General Genetics, vol.60, issue.3, pp.289-296, 1007. ,
DOI : 10.1007/BF00280418
Saturation of DNA mismatch repair and error catastrophe by a base analogue in Escherichia coli, Genetics, vol.161, pp.1363-1371, 2002. ,
Homologous recombination mediates S-phase-dependent radioresistance in cells deficient in DNA polymerase eta, Carcinogenesis, vol.15, issue.11, pp.2026-2034, 2012. ,
DOI : 10.1158/1078-0432.CCR-08-1227
Landscape of somatic mutations in 560 breast cancer whole-genome sequences, Nature, vol.14, issue.7605, pp.47-54, 2016. ,
DOI : 10.1093/bioinformatics/btq170
URL : https://hal.archives-ouvertes.fr/hal-01388447
Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair, Carcinogenesis, vol.18, issue.6, pp.1127-1133, 1997. ,
DOI : 10.1093/carcin/18.6.1127
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas, Nature Genetics, vol.98, issue.2, pp.136-144, 2013. ,
DOI : 10.1093/bioinformatics/btp253
Mutation of a mutL homolog in hereditary colon cancer, Science, vol.263, issue.5153, pp.1625-1629, 1994. ,
DOI : 10.1126/science.8128251
Hypermutability and mismatch repair deficiency in RER+ tumor cells, Cell, vol.75, issue.6, pp.1227-12360092, 1993. ,
DOI : 10.1016/0092-8674(93)90331-J
Correction: Evidence for interplay among yeast replicative DNA polymerases alpha, delta and epsilon from studies of exonuclease and polymerase active site mutations, BMC Biology, vol.5, issue.1, pp.1741-7007, 2004. ,
DOI : 10.1186/1741-7007-5-27
Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis, Inflammatory Bowel Diseases, vol.61, issue.5, pp.605-611, 2008. ,
DOI : 10.1002/1097-0142(20010615)91:12<2417::AID-CNCR1276>3.0.CO;2-U
Genetic knockouts and knockins in human somatic cells, Nature Protocols, vol.225, issue.11, pp.2734-2746, 2007. ,
DOI : 10.1128/MCB.15.1.45
A panoply of errors: polymerase proofreading domain mutations in cancer, Nature Reviews Cancer, vol.3, issue.2, pp.71-81, 2016. ,
DOI : 10.1002/cam4.305
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers, Nature Genetics, vol.57, issue.9, pp.970-976, 2013. ,
DOI : 10.1016/j.dnarep.2007.07.002
Determining Mutation Rates in Bacterial Populations, Methods, vol.20, issue.1, pp.4-17, 2000. ,
DOI : 10.1006/meth.1999.0901
Regression of Chemotherapy-Resistant Polymerase ?? (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab, Clinical Cancer Research, vol.22, issue.23, pp.5682-5687, 2016. ,
DOI : 10.1158/1078-0432.CCR-16-1031
The extreme mutator effect of Escherichia coli mutD5 results from saturation of mismatch repair by excessive DNA replication errors, The EMBO journal, vol.8, pp.3511-3516, 1989. ,
Defective Mismatch Repair, Microsatellite Mutation Bias, and Variability in Clinical Cancer Phenotypes, Cancer Research, vol.70, issue.2, pp.431-4350008, 1158. ,
DOI : 10.1158/0008-5472.CAN-09-3049
3'?>5' exonucleases of DNA polymerases epsilon and delta correct base analog induced DNA replication errors on opposite DNA strands in Saccharomyces cerevisiae, Genetics, vol.142, pp.717-726, 1996. ,
Unique Error Signature of the Four-subunit Yeast DNA Polymerase ??, Journal of Biological Chemistry, vol.268, issue.44, pp.43770-43780, 2003. ,
DOI : 10.1073/pnas.91.15.6830
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication, Genome Research, vol.19, issue.11, pp.1740-1750, 2014. ,
DOI : 10.1016/j.mrfmmm.2014.01.003
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers, Nature Genetics, vol.262, issue.3, pp.257-262, 2015. ,
DOI : 10.1101/gr.174789.114
The 3' to 5' exonuclease activity located in the DNA polymerase delta subunit of Saccharomyces cerevisiae is required for accurate replication, The EMBO journal, vol.10, pp.2165-2170, 1991. ,
Exploring the Genomes of Cancer Cells: Progress and Promise, Science, vol.464, issue.7291, pp.1553-1558, 2011. ,
DOI : 10.1038/nature08987
Differential DNA mismatch repair underlies mutation rate variation across the human genome, Nature, vol.42, issue.7550, pp.81-84, 2015. ,
DOI : 10.2307/1939574
Complementation of mismatch repair gene defects by chromosome transfer, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol.402, issue.1-2, pp.15-22, 1016. ,
DOI : 10.1016/S0027-5107(97)00277-7
Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants., Molecular and Cellular Biology, vol.17, issue.5, pp.2859-2865, 1997. ,
DOI : 10.1128/MCB.17.5.2859
Case Series, Toxicologic Pathology, vol.1, issue.3, pp.476-485, 2010. ,
DOI : 10.1073/pnas.86.23.9412
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Research, vol.8, issue.1, p.20601685, 2010. ,
DOI : 10.1038/sj.ejhg.5200406
From human genome to cancer genome: The first decade, Genome Research, vol.23, issue.7, pp.1054-1062, 2013. ,
DOI : 10.1101/gr.157602.113
Emergence of DNA Polymerase ?? Antimutators That Escape Error-Induced Extinction in Yeast, Genetics, vol.193, issue.3, pp.751-770, 2013. ,
DOI : 10.1534/genetics.112.146910
dNTP pool levels modulate mutator phenotypes of error-prone DNA polymerase ?? variants, Proceedings of the National Academy of Sciences, vol.26, issue.4, pp.2457-2466, 2015. ,
DOI : 10.1186/1471-2105-11-141
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ???Care for CMMRD??? (C4CMMRD), Journal of Medical Genetics, vol.51, issue.6, pp.355-365 ,
DOI : 10.1002/gcc.21966
Comparison of the kinetic parameters of the truncated catalytic subunit and holoenzyme of human DNA polymerase ??, DNA Repair, vol.29, pp.16-22, 2015. ,
DOI : 10.1016/j.dnarep.2015.01.008
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma, Proceedings of the National Academy of Sciences, vol.104, issue.50, pp.2916-2921, 2013. ,
DOI : 10.1073/pnas.0710052104
Expression of DNA translesion synthesis polymerase h in head and neck squamous cell cancer predicts resistance to gemcitabine and cisplatinbased chemotherapy, PLoS One, vol.8, pp.2437677-2437686, 2013. ,
Naphthalimides Induce G2 Arrest Through the ATM-Activated Chk2-Executed Pathway in HCT116 Cells, Neoplasia, vol.11, issue.11, pp.1226-1234, 2009. ,
DOI : 10.1593/neo.09986