L. B. Alexandrov, S. Nik-zainal, D. C. Wedge, S. A. Aparicio, S. Behjati et al., Signatures of mutational processes in human cancer, Nature, vol.500, pp.415-421, 2013.

G. Assie, E. Letouze, M. Fassnacht, A. Jouinot, W. Luscap et al., Integrated genomic characterization of adrenocortical carcinoma, Nature genetics, vol.46, pp.607-612, 2014.
URL : https://hal.archives-ouvertes.fr/hal-01255809

E. Becht, N. A. Giraldo, L. Lacroix, B. Buttard, N. Elarouci et al., , 2016.

, Estimating the population abundance of tissue-infiltrating immune and stromal cell populations using gene expression, Genome biology, vol.17, p.218

Y. Benjamini, Y. , and D. , , 2001.

K. Berthenet, A. Bokhari, A. Lagrange, G. Marcion, C. Boudesco et al., HSP110 promotes colorectal cancer growth through STAT3 activation, Oncogene, vol.36, pp.2328-2336, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01513813

K. Berthenet, C. Boudesco, A. Collura, M. Svrcek, S. Richaud et al.,

S. Causse, N. Yousfi, K. Wanherdrick, and L. Duplomb, Extracellular HSP110 skews macrophage polarization in colorectal cancer, Oncoimmunology, vol.5, p.1170264, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01429062

D. S. Biard, E. Despras, A. Sarasin, and J. F. Angulo, Development of new EBV-based vectors for stable expression of small interfering RNA to mimick human syndromes: application to NER gene silencing, Mol Cancer Res, vol.3, pp.519-529, 2005.

C. R. Boland, S. N. Thibodeau, S. R. Hamilton, D. Sidransky, J. R. Eshleman et al.,

S. Srivastava, A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer research, vol.58, pp.5248-5257, 1998.

O. Buhard, F. Cattaneo, Y. F. Wong, S. F. Yim, E. Friedman et al., Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors, J Clin Oncol, vol.24, pp.241-251, 2006.

N. Cancer-genome-atlas, Comprehensive molecular characterization of human colon and rectal cancer, Nature, vol.487, pp.330-337, 2012.

A. Collura, A. Lagrange, M. Svrcek, L. Marisa, O. Buhard et al.,

K. Wanherdrick, C. Dorard, A. Taieb, and A. Saget, Patients with colorectal tumors with microsatellite instability and large deletions in HSP110 T17 have improved response to 5-fluorouracil-based chemotherapy, Gastroenterology, vol.146, pp.401-411, 2014.

X. Cong, C. Lu, X. Huang, D. Yang, X. Cui et al., Increased expression of glycinamide ribonucleotide transformylase is associated with a poor prognosis in hepatocellular carcinoma, and it promotes liver cancer cell proliferation, Hum Pathol, vol.45, pp.1370-1378, 2014.

I. Cortes-ciriano, S. Lee, W. Y. Park, T. M. Kim, and P. J. Park, , 2017.

F. J. De-miguel, R. D. Sharma, M. J. Pajares, L. M. Montuenga, A. Rubio et al., Identification of alternative splicing events regulated by the oncogenic factor SRSF1 in lung cancer, Cancer research, vol.74, pp.1105-1115, 2014.

C. Dorard, A. De-thonel, A. Collura, L. Marisa, M. Svrcek et al., Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis, Nature medicine, vol.17, pp.1283-1289, 2011.

A. Duval and R. Hamelin, Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability, Cancer research, vol.62, pp.2447-2454, 2002.

A. Duval, M. Reperant, A. Compoint, R. Seruca, and G. N. Ranzani,

R. Hamelin, Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency, Cancer research, vol.62, pp.1609-1612, 2002.

A. Duval, S. Rolland, A. Compoint, E. Tubacher, and B. Iacopetta,

R. Hamelin, Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers, Human molecular genetics, vol.10, pp.513-518, 2001.

J. El-bchiri, O. Buhard, V. Penard-lacronique, G. Thomas, R. Hamelin et al., Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers, Human molecular genetics, vol.14, pp.2435-2442, 2005.

R. Fishel, M. K. Lescoe, M. R. Rao, N. G. Copeland, N. A. Jenkins et al.,

M. Kane and R. Kolodner, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, vol.75, pp.1027-1038, 1993.

G. Giannini, C. Rinaldi, E. Ristori, M. I. Ambrosini, F. Cerignoli et al.,

S. Berni, G. D'amati, and G. Scambia, Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability, Oncogene, vol.23, pp.2640-2647, 2004.

A. Gnirke, A. Melnikov, J. Maguire, P. Rogov, E. M. Leproust et al.,

T. Fennell, G. Giannoukos, S. Fisher, and C. Russ, Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing, 2009.

, Nat Biotechnol, vol.27, pp.182-189

A. W. Goldrath, C. J. Luckey, R. Park, C. Benoist, and D. Mathis, The molecular program induced in T cells undergoing homeostatic proliferation, Proceedings of the National Academy of Sciences of the United States of America, vol.101, pp.16885-16890, 2004.

M. Greaves and C. C. Maley, Clonal evolution in cancer, Nature, vol.481, p.306, 2012.

R. Hamelin, A. Chalastanis, C. Colas, J. El-bchiri, D. Mercier et al., Bulletin du cancer, vol.95, pp.121-132, 2008.

D. Hanahan and R. A. Weinberg, Hallmarks of cancer: the next generation, Cell, vol.144, pp.646-674, 2011.

P. C. Hansen, O. , and D. P. , The Use of the L-Curve in the Regularization of Discrete Ill-Posed Problems SIAM, J Sci Comput, vol.14, pp.1487-1503, 1993.

R. J. Hause, C. C. Pritchard, J. Shendure, and S. J. Salipante, Classification and characterization of microsatellite instability across 18 cancer types, Nature medicine, vol.22, pp.1342-1350, 2016.

Z. Y. He, S. G. Wu, F. Peng, Q. Zhang, Y. Luo et al., UpRegulation of RFC3 Promotes Triple Negative Breast Cancer Metastasis and is Associated With Poor Prognosis Via EMT, Transl Oncol, vol.10, pp.1-9, 2017.

W. Huang-da, B. T. Sherman, and R. A. Lempicki, Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists, Nucleic acids research, vol.37, pp.1-13, 2009.

Y. Ionov, N. Nowak, M. Perucho, S. Markowitz, and J. K. Cowell, , 2004.

, Manipulation of nonsense mediated decay identifies gene mutations in colon cancer Cells with microsatellite instability, Oncogene, vol.23, pp.639-645

Y. Ionov, M. A. Peinado, S. Malkhosyan, D. Shibata, and M. Perucho, , 1993.

T. M. Kim, P. W. Laird, and P. J. Park, The landscape of microsatellite instability in colorectal and endometrial cancer genomes, Cell, vol.155, pp.858-868, 2013.

J. Kondelin, A. E. Gylfe, S. Lundgren, T. Tanskanen, J. Hamberg et al., , 2017.

D. T. Le, J. N. Uram, H. Wang, B. R. Bartlett, H. Kemberling et al., PD-1 Blockade in Tumors 107 with Mismatch-Repair Deficiency, The New England journal of medicine, vol.372, pp.2509-2520, 2015.

F. S. Leach, N. C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen et al., , 1993.

, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell, vol.75, pp.1215-1225

X. Liu, Z. Ding, Y. Liu, J. Zhang, F. Liu et al., Glycinamide ribonucleotide formyl transferase is frequently overexpressed in glioma and critically regulates the proliferation of glioma cells, Pathol Res Pract, vol.210, pp.256-263, 2014.

N. J. Llosa, M. Cruise, A. Tam, E. C. Wicks, E. M. Hechenbleikner et al., The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints, Cancer discovery, vol.5, pp.43-51, 2015.

R. A. Lothe, P. Peltomaki, G. I. Meling, L. A. Aaltonen, M. Nystrom-lahti et al., Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history, Cancer research, vol.53, pp.5849-5852, 1993.

P. Maby, J. Galon, and J. B. Latouche, Frameshift mutations, neoantigens and tumor-specific CD8(+) T cells in microsatellite unstable colorectal cancers, Oncoimmunology, vol.5, p.1115943, 2016.

F. Margottin, S. P. Bour, H. Durand, L. Selig, S. Benichou et al., A novel human WD protein, h-beta TrCp, that 108 interacts with HIV-1 Vpu connects CD4 to the ER degradation pathway through an Fbox motif, Molecular cell, vol.1, pp.565-574, 1998.

L. Marisa, A. De-reynies, A. Duval, J. Selves, M. P. Gaub et al., Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value, PLoS medicine, vol.10, 2013.

L. Marisa, M. Svrcek, A. Collura, E. Becht, P. Cervera et al., The Balance between
URL : https://hal.archives-ouvertes.fr/hal-01727817

, Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression Determines Prognosis in Colon Tumors, Journal of the National Cancer Institute

P. Mccullagh and J. A. Nelder, Generalized linear models, 1989.

B. Mlecnik, G. Bindea, H. K. Angell, P. Maby, M. Angelova et al., Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability, Immunity, vol.44, pp.698-711, 2016.

G. Nalesso, B. L. Thomas, J. C. Sherwood, J. Yu, O. Addimanda et al., WNT16 antagonises excessive canonical WNT activation and protects cartilage in osteoarthritis, Ann Rheum Dis, vol.76, pp.218-226, 2017.

M. Nishiyama, A. I. Skoultchi, and K. I. Nakayama, Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-beta-catenin signaling pathway, Molecular and cellular biology, vol.32, pp.501-512, 2012.

B. Niu, K. Ye, Q. Zhang, C. Lu, M. Xie et al., MSIsensor: microsatellite instability detection using paired tumor-normal sequence data, Bioinformatics, vol.30, pp.1015-1016, 2014.
DOI : 10.1093/bioinformatics/btt755

URL : https://academic.oup.com/bioinformatics/article-pdf/30/7/1015/17149462/btt755.pdf

L. Novellasdemunt, P. Antas, L. , and V. S. , Targeting Wnt signaling in colorectal cancer. A Review in the Theme: Cell Signaling: Proteins, Pathways and Mechanisms, Am J Physiol Cell Physiol, vol.309, pp.511-521, 2015.

J. Patel, S. Baranwal, I. M. Love, N. J. Patel, S. R. Grossman et al., , 2014.

, signaling to selectively target colon cancer stem cells, Cell cycle, vol.13, pp.3506-3518

A. R. Rodan, J. , and A. , WNK Kinases in Development and Disease, Curr Top Dev Biol, vol.123, pp.1-47, 2017.

I. Saeterdal, J. Bjorheim, K. Lislerud, M. K. Gjertsen, I. K. Bukholm et al., , 2001.

, Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer, Proceedings of the National Academy of Sciences of the United States of America, vol.98, pp.13255-13260

D. Sagher, A. Hsu, and B. Strauss, Stabilization of the intermediate in frameshift mutation, Mutat Res, vol.423, pp.73-77, 1999.

E. Serysheva, M. Mlodzik, J. , and A. , WNKs in Wnt/beta-catenin signaling, Cell cycle, vol.13, pp.173-174, 2014.

D. A. Williams, Extra-binomial variation in logistic linear models, Applied statistics, pp.144-148, 1982.

J. Tibshirani and C. D. Manning, Robust logistic regression using shift parameters, ACL, pp.124-129, 2014.

R. Tibshirani, Regression shrinkage and selection via the lasso, Journal of the Royal Statistical Society. Series B (Methodological), pp.267-288, 1996.

D. P. Bertsekas, Incremental gradient, subgradient, and proximal methods for convex optimization: A survey. Optimization for Machine Learning, pp.1-38, 2010.

J. M. Bernardo, Algorithm as 103: Psi (digamma) function, Journal of the Royal Statistical Society. Series C (Applied Statistics), vol.25, pp.315-317, 1976.

C. Analytics, Anaconda software distribution, Computer software. Vers, vol.2, p.0, 2015.

P. C. Hansen and D. P. Oleary, The use of the l-curve in the regularization of discrete ill-posed problems, SIAM Journal on Scientific Computing, vol.14, pp.1487-1503, 1993.

P. Mccullagh and J. A. Nelder, Generalized linear models, vol.37, 1989.

Y. Benjamini and D. Yekutieli, The control of the false discovery rate in multiple testing under dependency, Annals of statistics, pp.1165-1188, 2001.

L. A. Aaltonen, P. Peltomaki, F. S. Leach, P. Sistonen, L. Pylkkanen et al., Science, vol.260, pp.812-828, 1993.

R. Fishel, M. K. Lescoe, M. R. Rao, N. G. Copeland, N. A. Jenkins et al., The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, vol.75, pp.1027-1065, 1993.

Y. Ionov, M. A. Peinado, S. Malkhosyan, D. Shibata, and M. Perucho, Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature, vol.363, pp.558-61, 1993.

A. Duval and R. Hamelin, Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability, Cancer Res, vol.62, pp.2447-54, 2002.

C. Colas, F. Coulet, M. Svrcek, A. Collura, J. F. Fléjou et al., Lynch or not Lynch? Is that always a question?, Adv Cancer Res, vol.113, pp.121-66, 2012.

E. M. Stoffel, P. B. Mangu, S. B. Gruber, S. R. Hamilton, M. F. Kalady et al., of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines, European Society of Clinical Oncology. Hereditary colorectal cancer syndromes, vol.33, pp.209-226, 2015.

H. F. Vasen, G. Moslein, A. Alonso, I. Bernstein, L. Bertario et al., Guidelines for the clinical management of Lynch syndrome

, J Med Genet, vol.44, pp.353-62, 2007.

S. B. Gruber, New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing, Gastroenterology, vol.130, pp.577-87, 2006.

C. M. Ribic, D. J. Sargent, M. J. Moore, S. N. Thibodeau, A. J. French et al., Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer, N Engl J Med, vol.349, pp.247-57, 2003.

J. M. Carethers, E. J. Smith, C. A. Behling, L. Nguyen, A. Tajima et al., Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer, Gastroenterology, vol.126, pp.394-401, 2004.

D. J. Sargent, S. Marsoni, G. Monges, S. N. Thibodeau, R. Labianca et al., Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer, J Clin Oncol, vol.28, pp.3219-3245, 2010.

N. Suraweera, A. Duval, M. Reperant, C. Vaury, D. Furlan et al., Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR, Gastroenterology, vol.123, pp.1804-1815, 2002.

C. R. Boland, S. N. Thibodeau, S. R. Hamilton, D. Sidransky, J. R. Eshleman et al., A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer Res, vol.58, pp.5248-57, 1998.

A. Umar, C. R. Boland, J. P. Terdiman, S. Syngal, A. De-la-chapelle et al., Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability, J Natl Cancer Inst, vol.96, pp.261-269, 2004.

O. Buhard, F. Cattaneo, Y. F. Wong, S. F. Yim, E. Friedman et al., Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors, J Clin Oncol, vol.24, pp.241-51, 2006.

R. M. Xicola, X. Llor, E. Pons, A. Castells, C. Alenda et al., Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors, J Natl Cancer Inst, vol.99, pp.244-52, 2007.

A. Goel, T. Nagasaka, R. Hamelin, and C. R. Boland, An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers, PLoS ONE, vol.5, p.9393, 2010.

C. Dorard, A. De-thonel, A. Collura, L. Marisa, M. Svrcek et al., Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis, Nat Med, vol.17, pp.1283-1292, 2011.

A. Collura, A. Lagrange, M. Svrcek, L. Marisa, O. Buhard et al., Patients with colorectal tumors with microsatellite instability and large deletions in HSP110 T17 have improved response to 5-fluorouracil-based chemotherapy, vol.146, pp.401-412, 2014.

H. M. Cann, C. De-toma, L. Cazes, M. F. Legrand, V. Morel et al., A human genome diversity cell line panel, Science, vol.296, pp.261-263, 2002.

M. Svrcek, J. El-bchiri, A. Chalastanis, E. Capel, S. Dumont et al., Specific clinical and biological features characterize inflammatory bowel disease associated colorectal cancers showing microsatellite instability, J Clin Oncol, vol.25, pp.4231-4239, 2007.
URL : https://hal.archives-ouvertes.fr/hal-00815857

L. Joseph, T. W. Gyorkos, and L. Coupal, Bayesian estimation of disease prevalence and the parameters of diagnostic tests in the absence of a gold standard, Am J Epidemiol, vol.141, pp.263-72, 1995.

S. L. Hui and S. D. Walter, Estimating the error rates of diagnostic tests, Biometrics, vol.36, pp.167-71, 1980.

W. K. Hastings, Monte Carlo sampling methods using Markov chains and their applications, Biometrika, vol.57, pp.97-109, 1970.

A. P. Dempster, N. M. Laird, and D. B. Rubin, Maximum likelihood from incomplete data via the EM algorithm, J R Stat Soc, vol.39, pp.1-38, 1977.

A. Fléjou, A. Collura, and . Duval,

C. Hamelin, O. Garrido, T. Lascols, and . André,

C. Lepage, A. Chapusot, M. Bouvier, P. Gaub, H. Cervera et al.,

S. El-murr, M. Bodo, I. Muleris, M. Sourouille, C. Svrcek et al., , vol.53, p.155, 20162016-02-01.

L. A. Aaltonen, Clues to the pathogenesis of familial colorectal cancer, Science, issue.5109, pp.812-816, 1993.

M. Aarnio, Cancer risk in mutation carriers of DNA-mismatch-repair genes, International journal of cancer. Journal international du cancer, vol.81, issue.2, pp.214-218, 1999.

C. Albuquerque, Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability, Genes Chromosomes and Cancer, vol.49, issue.8, pp.746-759, 2010.

P. Alhopuro, Candidate driver genes in microsatellite-unstable colorectal cancer, International Journal of Cancer, vol.130, issue.7, pp.1558-1566, 2012.

A. A. Alizadeh, Toward understanding and exploiting tumor heterogeneity, Nature Medicine, vol.21, issue.8, pp.846-853, 2015.

C. J. Allegra, American Society of Clinical Oncology provisional clinical opinion: testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy, Journal of clinical oncology : official journal of the American Society of Clinical Oncology, vol.27, issue.12, pp.2091-2097, 2009.

E. K. Amankwah, Hormonal and reproductive risk factors for sporadic microsatellite stable and unstable endometrial tumors, Cancer Epidemiology Biomarkers and Prevention, vol.22, issue.7, pp.1325-1331, 2013.

A. Amaro, S. Chiara, and U. Pfeffer, Molecular evolution of colorectal cancer: from multistep carcinogenesis to the big bang, Cancer and Metastasis Reviews, vol.35, issue.1, pp.63-74, 2016.

T. André, Adjuvant Fluorouracil, Leucovorin, and Oxaliplatin in Stage II to III Colon Cancer: Updated 10-Year Survival and Outcomes According to BRAF Mutation and Mismatch Repair Status of the MOSAIC Study, Journal of Clinical Oncology, vol.33, issue.35, pp.4176-4187, 2015.

C. N. Arnold, A. Goel, and C. R. Boland, Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines, International Journal of Cancer, vol.106, issue.1, pp.66-73, 2003.

, Guideline on the Evaluation of Molecular Markers for Colorectal Cancer Expert Panel, 2016.

J. M. Bae, Prognostic implication of the CpG island methylator phenotype in colorectal cancers depends on tumor location, British journal of cancer, vol.109, issue.4, pp.1004-1016, 2013.

J. Balmana, Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines, Annals of Oncology, vol.24, pp.73-80, 2013.

B. J. Bansidhar, Extracolonic manifestations of lynch syndrome, Clinics in Colon and Rectal Surgery, vol.25, issue.2, pp.103-110, 2012.

J. B. Basil, Clinical significance of microsatellite instability in endometrial carcinoma, Cancer, vol.89, issue.8, pp.1758-64, 2000.

M. M. Bertagnolli, Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and leukemia group B protocol 89803, Journal of Clinical Oncology, vol.27, issue.11, pp.1814-1821, 2009.

K. Berthenet, HSP110 promotes colorectal cancer growth through STAT3 activation, Oncogene, pp.1-9, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01513813

A. Biroccio, c-Myb and Bcl-x overexpression predicts poor prognosis in colorectal cancer: clinical and experimental findings, The American journal of pathology, vol.158, issue.4, pp.64080-64081, 2001.

F. Boissière-michot, Characterization of an adaptive immune response in microsatellite-instable colorectal cancer, OncoImmunology, vol.3, issue.6, p.29256, 2014.

C. R. Boland, A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer Research, pp.5248-5257, 1998.

C. R. Boland and A. Goel, Microsatellite Instability in Colorectal Cancer, Gastroenterology, issue.6, p.138, 2010.

R. Bourdais, Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency, Critical Reviews in Oncology/Hematology, pp.242-248, 2017.

J. C. Boyer, Sequence dependent instability of mononucleotide microsatellites in cultured mismatch repair proficient and deficient mammalian cells, Human Molecular Genetics, vol.11, issue.6, pp.707-713, 2002.

M. S. Braun, Predictive biomarkers of chemotherapy efficacy in colorectal cancer: Results from the UK MRC FOCUS trial, Journal of Clinical Oncology, vol.26, issue.16, pp.2690-2698, 2008.

C. E. Bronner, Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer, Nature, vol.368, pp.258-261, 1994.

O. Buhard, Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors, Journal of Clinical Oncology, vol.24, issue.2, pp.241-251, 2006.

O. Buhard, HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer, Journal of Medical Genetics, vol.110, pp.1-8, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01427452

R. A. Burrell, The causes and consequences of genetic heterogeneity in cancer evolution, Nature, vol.501, issue.7467, pp.338-345, 2013.

T. Cajuso, Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer, International Journal 157 of Cancer, vol.135, issue.3, pp.611-623, 2014.

, Comprehensive molecular characterization of human colon and rectal cancer, Cancer Genome Atlas, vol.487, issue.7407, pp.330-337, 2012.

J. M. Carethers, Mismatch repair proficiency and in vitro response to 5-fluorouracil, Gastroenterology, vol.117, issue.1, pp.123-131, 1999.

T. L. Chan, Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer, Nat Genet, vol.38, issue.10, pp.1178-1183, 2006.

D. K. Chang, Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate, Genome Research, pp.1145-1146, 2001.

L. Chang, Expending Role of Microsatellite Instability in Diagnosis and Treatment of Colorectal Cancers, Journal of Gastrointestinal Cancer, 2017.

S. Chatterjee and J. K. Pal, Role of 5'-and 3'-untranslated regions of mRNAs in human diseases, European Cell Biology Organization, vol.101, issue.5, pp.251-262, 2009.

M. S. Cicek, Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population-And clinic-based colorectal tumors: Results from the colon cancer family registry, Journal of Molecular Diagnostics, vol.13, issue.3, pp.271-283, 2011.

C. Colas, Lynch or Not Lynch? Is that Always a Question?', Advances in Cancer Research, vol.113, pp.121-166, 2012.

R. Colle, Immunotherapy and patients treated for cancer with microsatellite instability, Bulletin du Cancer, vol.104, issue.1, pp.42-51, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01419557

A. Collura, Patients with colorectal tumors with microsatellite instability and large deletions in HSP110 T17 have improved response to 5-fluorouracil-based chemotherapy, Gastroenterology, issue.2, p.146, 2014.

X. Cong, Increased expression of glycinamide ribonucleotide transformylase is associated with a poor prognosis in hepatocellular carcinoma, and it promotes liver cancer cell proliferation, Human Pathology, vol.45, issue.7, pp.1370-1378, 2014.

I. Cortes-ciriano, A molecular portrait of microsatellite instability across multiple cancers, 2016.

C. Cremolini, First-line chemotherapy for mCRC-a review and evidence-based algorithm, Nature Reviews Clinical Oncology, vol.12, issue.10, pp.607-619, 2015.

D. Cunningham, Colorectal cancer, Lancet, vol.375, issue.9719, pp.1030-1077, 2010.

J. M. Cunningham, Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability, Cancer Research, vol.58, issue.15, pp.3455-3460, 1998.

E. Van-cutsem, Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer, vol.360, pp.1408-1425, 2009.

H. Davies, Mutations of the BRAF gene in human cancer, Nature, issue.6892, pp.949-954, 2002.

S. Deihimi, BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations, Oncotarget, 2017.

G. Deng, BRAF Mutation Is Frequently Present in Sporadic Colorectal Cancer with Methylated hMLH1, but Not in Hereditary Nonpolyposis Colorectal Cancer, Clinical Cancer Research, vol.10, issue.1 I, pp.191-195, 2004.

D. R. Denver, Mutation rates, spectra and hotspots in mismatch repair-deficient Caenorhabditis elegans, Genetics, vol.170, issue.1, pp.107-113, 2005.

S. Dilruba and G. V. Kalayda, Platinum-based drugs: past, present and future, Cancer Chemotherapy and Pharmacology, pp.1103-1124, 2016.

E. Domingo, BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing, Journal of Medical Genetics, vol.41, issue.9, pp.664-668, 2004.

E. Domingo, Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study, The Lancet Gastroenterology and Hepatology, vol.1, issue.3, pp.207-216, 2016.

C. Dorard, Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis, Nature medicine, vol.17, issue.10, pp.1283-1292, 2011.

J. Y. Douillard, Final results from PRIME: randomized phase III study of panitumumab with FOLFOX4 for first-line treatment of metastatic colorectal cancer, Medical Oncology / ESMO, vol.25, issue.7, pp.1346-55, 2014.

A. Duval, Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers, Human molecular genetics, vol.10, issue.5, pp.513-518, 2001.

A. Duval, Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency, Cancer Research, vol.62, issue.6, pp.1609-1612, 2002.

A. Duval and R. Hamelin, Mutations at coding repeat sequences in mismatch repairdeficient human cancers: Toward a new concept of target genes for instability, Cancer Research, pp.2447-2454, 2002.

A. Duval, M. Reperant, and R. Hamelin, Comparative analysis of mutation frequency of coding and non coding short mononucleotide repeats in mismatch repair deficient colorectal cancers, Oncogene, vol.21, pp.8062-8066, 2002.

J. S. Earle, Association of microRNA expression with microsatellite instability status in colorectal adenocarcinoma, The Journal of molecular diagnostics : JMD, vol.12, issue.4, pp.433-473, 2010.

D. L. Edelstein, Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome, Clinical Gastroenterology and Hepatology, vol.9, issue.4, pp.340-343, 2011.

Y. Ejima, L. Yang, and M. S. Sasaki, Aberrant splicing of the ATM gene associated with 159 shortening of the intronic mononucleotide tract in human colon tumor cell lines: A novel mutation target of microsatellite instability, International Journal of Cancer, vol.86, issue.2, pp.262-268, 2000.

J. El-bchiri, Nonsense-mediated mRNA decay impacts MSI-driven carcinogenesis and anti-tumor immunity in colorectal cancers, PLoS ONE, issue.7, p.3, 2008.
DOI : 10.1371/journal.pone.0002583

URL : https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0002583&type=printable

N. El-murr, MiRNA genes constitute new targets for microsatellite instability in colorectal cancer, PLoS ONE, vol.7, issue.2, 2012.
DOI : 10.1371/journal.pone.0031862

URL : https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0031862&type=printable

H. Ellegren, Microsatellites: simple sequences with complex evolution, Nature Reviews, vol.5, pp.435-445, 2004.
DOI : 10.1038/nrg1348

C. R. Espenschied, Multigene Panel Testing Provides a New Perspective on Lynch Syndrome, Journal of clinical oncology : official journal of the American Society of Clinical Oncology, p.2016719260, 2017.
DOI : 10.1200/jco.2016.71.9260

E. R. Fearon, Molecular genetics of colorectal cancer, vol.6, pp.479-507, 2011.

E. R. Fearon and B. Vogelstein, A genetic model for colorectal tumorigenesis, Cell, pp.759-767, 1990.
DOI : 10.1016/0092-8674(90)90186-i

D. Fink, The role of DNA mismatch repair in platinum drug resistance, Cancer Research, vol.56, issue.21, pp.4881-4886, 1996.

R. Fishel, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, vol.75, issue.5, pp.90546-90549, 1993.
DOI : 10.1016/0092-8674(93)90546-3

D. Furlan, Genetic progression in sporadic endometrial and gastrointestinal cancers with high microsatellite instability, Journal of Pathology, vol.197, issue.5, pp.603-609, 2002.

J. Galon, Type, density, and location of immune cells within human colorectal tumors predict clinical outcome, Science, issue.5795, pp.1960-1964, 2006.

R. A. Ganai and E. Johansson, DNA Replication-A Matter of Fidelity, Molecular Cell, pp.745-755, 2016.

I. Gazzoli, A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor, Cancer research, vol.62, pp.3925-3933, 2002.

A. Geißler, ATM mutations and E-cadherin expression define sensitivity to EGFRtargeted therapy in colorectal cancer, Oncotarget, vol.8, issue.10, pp.17164-17190, 2017.

F. Gelsomino, The evolving role of microsatellite instability in colorectal cancer: A review, Cancer Treatment Reviews, pp.19-26, 2016.

M. Giannakis, Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma, Cell Reports, vol.15, issue.4, pp.857-865, 2016.

G. Giannini, Mutations of an intronic repeat induce impaired MRE11 expression in 160 primary human cancer with microsatellite instability, Oncogene, vol.23, issue.15, pp.2640-2647, 2004.

F. M. Giardiello, Guidelines on genetic evaluation and management of lynch syndrome: A consensus statement by the us multi-society task force on colorectal cancer, Gastroenterology, vol.147, issue.2, pp.502-526, 2014.

J. Goldstein, Multicenter retrospective analysis of metastatic colorectal cancer (CRC) with high-level microsatellite instability (MSI-H)', Annals of oncology : official journal of the European Society for, Medical Oncology / ESMO, vol.25, issue.5, pp.1032-1038, 2014.

R. Gryfe, Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer, The New England journal of medicine, vol.342, issue.2, pp.69-77, 2000.

C. Guastadisegni, Microsatellite instability as a marker of prognosis and response to therapy: A meta-analysis of colorectal cancer survival data, European Journal of Cancer, vol.46, issue.15, pp.2788-2798, 2010.

G. Des-guetz, Microsatellite instability does not predict the efficacy of chemotherapy in metastatic colorectal cancer. A systematic review and meta-analysis, Anticancer Research, pp.1615-1620, 2009.

G. Des-guetz, Prognostic impact of microsatellite instability in colorectal cancer patients treated with adjuvant FOLFOX, Anticancer research, vol.30, issue.10, pp.4297-4301, 2010.

J. Guinney, The consensus molecular subtypes of colorectal cancer, Nature Medicine, vol.21, issue.11, pp.1350-1356, 2015.

A. E. Gylfe, Identification of candidate oncogenes in human colorectal cancers with microsatellite instability, Gastroenterology, issue.3, p.145, 2013.

F. A. Haggar and R. P. Boushey, Colorectal cancer epidemiology: Incidence, mortality, survival, and risk factors, Clinics in Colon and Rectal Surgery, vol.22, issue.4, pp.191-197, 2009.

W. A. Hammond, A. Swaika, and K. Mody, Pharmacologic resistance in colorectal cancer: a review, Therapeutic Advances in Medical Oncology, vol.8, issue.1, pp.57-84, 2016.

H. Hampel and J. A. Stephens, Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset, Gastroenterology, vol.129, issue.2, pp.415-421, 2005.

H. Hampel and W. L. Frankel, Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer), vol.352, pp.1851-60, 2005.

H. Hampel, Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer, Journal of Clinical Oncology, vol.26, issue.35, pp.5783-5788, 2008.

B. D. Harfe and S. Jinks-robertson, Sequence composition and context effects on the generation and repair of frameshift intermediates in mononucleotide runs in Saccharomyces 161 cerevisiae, Genetics, vol.156, issue.2, pp.571-578, 2000.

R. J. Hause, Classification and characterization of microsatellite instability across 18 cancer types, Nature Medicine, vol.22, issue.11, pp.1342-1350, 2016.

Z. He, Up-Regulation of RFC3 Promotes Triple Negative Breast Cancer Metastasis and is Associated With Poor Prognosis Via EMT, Translational Oncology, vol.10, issue.1, pp.1-9, 2017.

C. Heidelberger, Fluorinated Pyrimidines, A New Class of Tumor-Inhibitory Compounds', Nature, vol.179, issue.4561, pp.663-666, 1957.

M. S. Van-der-heijden, Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers, BMC genetics, vol.7, issue.1, p.3, 2006.

V. Heinemann, Clinical relevance of EGFR-and KRAS-status in colorectal cancer patients treated with monoclonal antibodies directed against the EGFR', Cancer Treatment Reviews, pp.262-271, 2009.

K. A. Hoadley, Multiplatform Analysis of 12 Cancer Types Reveals Molecular Classification within and across Tissues of Origin, Cell, pp.929-944, 2014.

R. Honchel, K. C. Halling, and S. N. Thibodeau, Genomic instability in neoplasia, Seminars in Cell Biology, vol.6, issue.1, pp.45-52, 1995.

H. Hugo, Mutations in the MYB intron 1 regulatory sequence increase transcription in colon cancers, Genes Chromosomes and Cancer, vol.45, issue.12, pp.1143-1154, 2006.

H. Hurwitz, Bevacizumab plus irinotecan, fluorouracil, and leucovorin for metastatic colorectal cancer, The New England Journal of Medicine, vol.350, issue.23, pp.2335-2342, 2004.

K. Imai and H. Yamamoto, Carcinogenesis and microsatellite instability: The interrelationship between genetics and epigenetics, Carcinogenesis, pp.673-680, 2008.

Y. Ionov, Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature, vol.363, issue.6429, pp.558-561, 1993.

K. W. Jasperson, Hereditary and Familial Colon Cancer, Gastroenterology, vol.138, issue.6, pp.2044-2058, 2010.

J. R. Jass, Pathology of hereditary non-polyposis colorectal cancer, Anticancer Research, pp.1631-1634, 1994.

J. R. Jass, Morphology of sporadic colorectal cancer with DNA replication errors, Gut, vol.42, issue.5, pp.673-682, 1998.

J. R. Jass, Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability, European Journal of Cancer, vol.38, issue.7, pp.858-866, 2002.

J. R. Jass, APC mutation and tumor budding in colorectal cancer, Journal of Clinical Pathology, vol.56, issue.1, pp.69-73, 2003.

J. R. Jass, HNPCC and sporadic MSI-H colorectal cancer: A review of the morphological similarities and differences, Familial Cancer, pp.93-100, 2004.

J. R. Jass, Classification of colorectal cancer based on correlation of clinical, morphological and molecular features, Histopathology, pp.113-130, 2007.

J. Jiricny, The multifaceted mismatch-repair system, Nature Reviews Molecular Cell Biology, vol.7, issue.5, pp.335-346, 2006.

J. Jiricny, Postreplicative mismatch repair', Cold Spring Harbor Perspectives in Biology, pp.1-23, 2013.

C. M. Johnson, Meta-analyses of colorectal cancer risk factors, Cancer causes & control : CCC, vol.24, issue.6, pp.1207-1229, 2013.

M. F. Kane, Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines, Cancer Research, vol.57, issue.5, pp.808-811, 1997.

G. H. Kang, Four molecular subtypes of colorectal cancer and their precursor lesions, vol.135, pp.698-703, 2011.

D. Killock, Immunotherapy: PD-1 blockade exploiting MMR deficiency, Nature Reviews Clinical Oncology, vol.14, issue.8, pp.459-459, 2017.

C. G. Kim, Effects of microsatellite instability on recurrence patterns and outcomes in colorectal cancers, British journal of cancer, pp.1-9, 2016.

H. G. Kim, Clinical and Pathological Characteristics of Sporadic Colorectal Carcinomas with DNA-Replication Errors in Microsatellite Sequences, American Journal of Pathology, vol.145, issue.1, pp.148-156, 1994.

J. E. Kim, Association between deficient mismatch repair system and efficacy to irinotecan-containing chemotherapy in metastatic colon cancer, Cancer Science, vol.102, issue.9, pp.1706-1711, 2011.

J. E. Kim, Microsatellite Instability was not Associated with Survival in Stage III Colon Cancer Treated with Adjuvant Chemotherapy of Oxaliplatin and Infusional 5-Fluorouracil and Leucovorin (FOLFOX), Annals of Surgical Oncology, vol.24, issue.5, pp.1289-1294, 2017.

T. M. Kim, P. W. Laird, and P. J. Park, The landscape of microsatellite instability in colorectal and endometrial cancer genomes, Cell, issue.4, p.155, 2013.

S. Kishore, 3?-UTR Poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair-deficient cancers, Cancer Research, vol.74, issue.1, pp.224-234, 2014.

M. Kloor, Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers, Cancer Research, vol.65, issue.14, pp.163-6418, 2005.

A. G. Knudson, Mutation and cancer: statistical study of retinoblastoma, Proceedings of the National Academy of Sciences of the United States of America, vol.68, pp.820-823, 1971.

S. Koido, Immunotherapy for colorectal cancer, World Journal of Gastroenterology, vol.19, issue.46, pp.8531-8542, 2013.

J. Kondelin, 3?-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity, Familial Cancer, vol.14, issue.3, pp.449-453, 2015.

J. Kondelin, Comprehensive evaluation of protein coding mononucleotide microsatellites in microsatellite-unstable colorectal cancer', Cancer Research, 2017.

M. Koopman, Deficient mismatch repair system in patients with sporadic advanced colorectal cancer, British Journal of Cancer, vol.100, issue.2, pp.266-273, 2009.

L. C. Kroutil, Exonucleolytic proofreading during replication of repetitive DNA, Biochemistry, vol.35, issue.3, pp.1046-1053, 1996.

S. A. Kuismanen, Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability, vol.160, pp.61144-61147, 2002.

T. A. Kunkel and D. A. Erie, Eukaryotic Mismatch Repair in Relation to DNA Replication, Annual Review of Genetics, vol.49, issue.1, pp.291-313, 2015.

G. Lanza, mRNA/microRNA gene expression profile in microsatellite unstable colorectal cancer, Molecular cancer, vol.6, p.54, 2007.

D. T. Le, PD-1 Blockade in Tumors with Mismatch-Repair Deficiency, New England Journal of Medicine, vol.372, issue.26, pp.2509-2520, 2015.

D. T. Le, Mismatch-repair deficiency predicts response of solid tumors to PD-1 blockade, Science, pp.1-11, 2017.

F. S. Leach, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, pp.1215-1225, 1993.

J. Lebrun, The Dual Role of TGF? in Human Cancer: From Tumor Suppression to Cancer Metastasis, ISRN molecular biology, p.381428, 2012.

T. Lecomte, Y. André, . Panis, F. B. Laurent-puig, and J. Taieb, «Cancer du côlon», Thésaurus National de Cancérologie Digestive, 2016.

M. A. Lewandowska, The missing puzzle piece: Splicing mutations, International Journal of Clinical and Experimental Pathology, pp.2675-2682, 2013.

F. Li, The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutS?, Cell, vol.153, issue.3, pp.590-600, 2013.

S. K. Li, H. Martin, and A. , Mismatch Repair and Colon Cancer: Mechanisms and Therapies Explored', Trends in Molecular Medicine, pp.274-289, 2016.

M. J. Ligtenberg, Heritable somatic methylation and inactivation of MSH2 in families 164, 2009.

, with Lynch syndrome due to deletion of the 3' exons of TACSTD1, Nature genetics, vol.41, issue.1, pp.112-117

S. Lim, Prognostic significance of microsatellite instability in sporadic colorectal cancer, International journal of colorectal disease, vol.19, issue.6, pp.533-540, 2004.

E. I. Lin, Mutational profiling of colorectal cancers with microsatellite instability, Oncotarget, vol.6, issue.39, pp.42334-42378, 2015.

N. M. Lindor, Immunohistochemistry versus microsatellite instability testing in phenotyping coloreetal tumors, Journal of Clinical Oncology, vol.20, issue.4, pp.1043-1048, 2002.

M. Linnebacher, Frameshift peptide-derived T-cell epitopes: A source of novel tumorspecific antigens, International Journal of Cancer, vol.93, issue.1, pp.6-11, 2001.

X. Liu, Glycinamide ribonucleotide formyl transferase is frequently overexpressed in glioma and critically regulates the proliferation of glioma cells, Pathology Research and Practice, vol.210, issue.4, pp.256-263, 2014.

N. J. Llosa, The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints, Cancer Discovery, vol.5, issue.1, pp.43-51, 2015.

W. W. Lockwood, Integrative genomics identified RFC3 as an amplified candidate oncogene in esophageal adenocarcinoma, Clinical Cancer Research, vol.18, issue.7, pp.1936-1946, 2012.

D. B. Longley, D. P. Harkin, and P. G. Johnston, 5-Fluorouracil: mechanisms of action and clinical strategies, Nature Reviews Cancer, vol.3, issue.5, pp.330-338, 2003.

T. Løvig, APC and CTNNB1 mutations in a large series of sporadic colorectal carcinomas stratified by the microsatellite instability status, Scandinavian journal of gastroenterology, vol.37, issue.10, pp.1184-1193, 2002.

H. T. Lynch, Hereditary Factors in Cancer Study of Two Large Midwestern Kindreds, Archives of Internal Medicine, vol.117, issue.2, pp.206-2012, 1966.

H. T. Lynch, Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource, Cancer, vol.56, issue.4, pp.934-942, 1985.

H. T. Lynch, Milestones of Lynch syndrome, Nature Reviews Cancer, vol.15, pp.181-194, 2015.

H. T. Lynch and A. De-la-chapelle, Hereditary Colorectal Cancer, The New England Journal of Medicine, vol.348, issue.10, pp.919-932, 2003.

P. Maby, J. Galon, and J. Latouche, Frameshift mutations, neoantigens and tumorspecific CD8 + T cells in microsatellite unstable colorectal cancers, OncoImmunology, vol.5, issue.5, p.1115943, 2016.

N. D. Macdonald, Frequency and prognostic impact of microsatellite instability in a large population-based study of endometrial carcinomas, Cancer research, vol.60, pp.1750-1752, 2000.

M. J. Mäkinen, Colorectal serrated adenocarcinoma, Histopathology, pp.131-150, 2007.

S. Malkhosyan, Frameshift mutator mutations, Nature, vol.382, issue.6591, pp.499-500, 1996.
DOI : 10.1038/382499a0

S. R. Malkhosyan, Late onset and high incidence of colon cancer of the mutator phenotype with hypermethylated hMLH1 gene in women, Gastroenterology, vol.119, issue.2, p.598, 2000.

L. Marisa, Gene Expression Classification of Colon Cancer into Molecular Subtypes: Characterization, Validation, and Prognostic Value, PLoS Medicine, issue.5, p.10, 2013.

L. Marisa, The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors, JNCI: Journal of the National Cancer Institute, issue.1, p.110, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01727817

S. Markowitz, Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability, Science, vol.268, issue.5215, pp.1336-1338, 1995.

M. Matano, Modeling colorectal cancer using CRISPR-Cas9-mediated engineering of human intestinal organoids, Nature Medicine, vol.21, issue.3, pp.256-62, 2015.
DOI : 10.1038/nm.3802

J. A. Mccormick and D. H. Ellison, The WNKs: Atypical Protein Kinases With Pleiotropic Actions, Physiological Reviews, vol.91, issue.1, pp.177-219, 2011.

C. D. Mcfarland, Impact of deleterious passenger mutations on cancer progression, Proceedings of the National Academy of Sciences, vol.110, issue.8, pp.2910-2915, 2013.

N. Mcgranahan and C. Swanton, Biological and therapeutic impact of intratumor heterogeneity in cancer evolution, Cancer Cell, vol.27, issue.1, pp.15-26, 2015.

L. A. Mcpherson, Y. Shen, and J. M. Ford, Poly (ADP-ribose) polymerase inhibitor LT-626: Sensitivity correlates with MRE11 mutations and synergizes with platinums and irinotecan in colorectal cancer cells, Cancer Letters, vol.343, issue.2, pp.217-223, 2014.

M. A. Merok, Microsatellite instability has a positive prognostic impact on stage II colorectal cancer after complete resection: Results from a large, consecutive norwegian series, Annals of Oncology, vol.24, issue.5, pp.1274-1282, 2013.
DOI : 10.1093/annonc/mds614

URL : https://academic.oup.com/annonc/article-pdf/24/5/1274/13788859/mds614.pdf

D. Metzgar and C. Wills, Evidence for the adaptive evolution of mutation rates, Cell, vol.101, issue.6, pp.80869-80876, 2000.

M. Meyers, Role of the hMLH1 DNA mismatch repair protein in fluoropyrimidinemediated cell death and cell cycle responses, Cancer Research, issue.13, pp.5193-5201, 2001.

F. J. De-miguel, Identification of alternative splicing events regulated by the oncogenic factor SRSF1 in lung cancer, Cancer Research, vol.74, issue.4, pp.1105-1115, 2014.

L. Mirabelli-primdahl, ?-Catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway, p.166, 1999.

, Cancer Research, vol.59, issue.14, pp.3346-3351

B. Mitrovic, Tumor budding in colorectal carcinoma: time to take notice, Modern Pathology, vol.25, issue.10, pp.1315-1340, 2012.

M. Miyaki, Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer, Cancer Res, vol.59, issue.18, pp.4506-4509, 1999.

H. M. Mohan, Microsatellite instability is associated with reduced disease specific survival in stage III colon cancer, European Journal of Surgical Oncology, pp.1-7, 2016.

P. Møller, Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database, Gut, pp.2015-309675, 2015.

S. Moniz and P. Jordan, Emerging roles for WNK kinases in cancer, Cellular and Molecular Life Sciences, pp.1265-1276, 2010.

L. Morandi, T[20] repeat in the 3'-untranslated region of the MT1X gene: A marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer, International Journal of Colorectal Disease, vol.27, issue.5, pp.647-656, 2012.

L. Moreira, Identification of Lynch syndrome among patients with colorectal cancer, JAMA, vol.308, issue.15, pp.1555-65, 2012.

Y. Mori, Instabilotyping: Comprehensive identification of frameshift mutations caused by coding region microsatellite instability, Cancer Research, issue.16, pp.6046-6049, 2001.

Y. Mori, Instabilotyping reveals unique mutational spectra in microsatellite-unstable gastric cancers, Cancer Research, vol.62, issue.13, pp.3641-3645, 2002.

E. Nadir, Microsatellite spreading in the human genome: evolutionary mechanisms and structural implications, Proceedings of the National Academy of Sciences of the United States of America, vol.93, pp.6470-6475, 1996.

L. Nebot-bral, Hypermutated tumors in the era of immunotherapy: The paradigm of personalised medicine, European Journal of Cancer, pp.290-303, 2017.

M. Nilbert, Microsatellite instability is rare in rectal carcinomas and signifies hereditary cancer, European Journal of Cancer, vol.35, issue.6, pp.942-945, 1999.

C. Oliveira, BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency, Oncogene, vol.22, pp.9192-9198, 2003.

M. J. Overman, Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): An open-label, multicentre, phase 2 study, The Lancet Oncology, issue.17, pp.30422-30431, 2017.

G. E. Palomaki, EGAPP supplementary evidence review: DNA testing strategies aimed 167 at reducing morbidity and mortality from Lynch syndrome, Genetics in Medicine, vol.11, issue.1, pp.42-65, 2009.

M. Parsons, Correlation of tumor BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumor features for MMR variant classification, Journal of Medical Genetics, vol.49, issue.3, pp.151-157, 2012.

B. C. Paun, Screening for microsatellite instability identifies frequent 3'-Untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors, PLoS ONE, issue.11, p.4, 2009.

P. Peltomäki, Lynch syndrome genes, Familial Cancer, vol.4, issue.3, pp.227-232, 2005.

M. Pickup, S. Novitskiy, and H. L. Moses, The roles of TGF? in the tumor microenvironment, Nature reviews. Cancer, vol.13, issue.11, pp.788-99, 2013.

G. M. Pio, Soluble bone-derived osteopontin promotes migration and stem-like behavior of breast cancer cells, PLoS ONE, issue.5, p.12, 2017.

J. P. Plazzer, The InSiGHT database: Utilizing 100 years of insights into Lynch Syndrome, Familial Cancer, vol.12, issue.2, pp.175-180, 2013.

S. Popat, R. Hubner, and R. S. Houlston, Systematic review of microsatellite instability and colorectal cancer prognosis, Journal of clinical oncology : official journal of the American Society of Clinical Oncology, vol.23, issue.3, pp.609-618, 2005.

J. N. Poynter, Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening, Cancer Epidemiology Biomarkers and Prevention, vol.17, issue.11, pp.3208-3215, 2008.

H. Rajagopalan, Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status, Nature, vol.418, issue.6901, p.934, 2002.

N. Rampino, Somatic Frameshift Mutations in the BAX Gene in Colon Cancers of the Microsatellite Mutator Phenotype, Science, vol.275, issue.5302, pp.967-969, 1997.

C. P. Raut, T. M. Pawlik, and . Rodriguez-bigas, Clinicopathologic features in colorectal cancer patients with microsatellite instability, Mutation research, vol.568, pp.275-82, 2004.

C. M. Ribic, Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer, The New England journal of medicine, vol.349, issue.3, pp.247-57, 2003.

S. Richman, Deficient mismatch repair: Read all about it (Review), International Journal of Oncology, pp.1189-1202, 2015.

A. D. Roth, Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: Results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial, Journal of Clinical Oncology, vol.28, issue.3, pp.466-474, 2010.

A. D. Roth, Integrated analysis of molecular and clinical prognostic factors in stage II/III 168 colon cancer, Journal of the National Cancer Institute, vol.104, issue.21, pp.1635-1646, 2012.

T. Ruggiero, Deletion in a (T)8 microsatellite abrogates expression regulation by 3'UTR, Nucleic Acids Research, vol.31, issue.22, pp.6561-6569, 2003.

A. K. Rustgi, The genetics of hereditary colon cancer', Genes and Development, pp.2525-2538, 2007.

E. Ryan, The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing, Critical Reviews in Oncology, vol.116, pp.38-57, 2017.

I. Saeterdal, Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer, Proceedings of the National Academy of Sciences of the United States of America, vol.98, pp.13255-60, 2001.

D. Sagher, A. Hsu, and B. Strauss, Stabilization of the intermediate in frameshift mutation', Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, vol.423, pp.73-77, 1999.

W. S. Samowitz, Evaluation of colorectal cancers for Lynch syndrome: practical molecular diagnostics for surgical pathologists, vol.28, pp.109-122, 2015.

P. De-santa-barbara, . Van-den, G. R. Brink, and D. J. Roberts, Development and differentiation of the intestinal epithelium', Cellular and Molecular Life Sciences, pp.1322-1332, 2003.

D. J. Sargent, Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer, Journal of Clinical Oncology, vol.28, issue.20, pp.3219-3226, 2010.

Y. Sasaki, Y. Nakatani, and S. Hara, Role of microsomal prostaglandin E synthase-1 (mPGES1)-derived prostaglandin E2 in colon carcinogenesis, Prostaglandins and Other Lipid Mediators, vol.121, pp.42-45, 2015.

M. J. Schellenberg, D. B. Ritchie, and A. M. Macmillan, Pre-mRNA splicing: a complex picture in higher definition, Trends in Biochemical Sciences, pp.243-246, 2008.

S. Schwartz, Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype, Cancer Research, vol.59, issue.12, pp.2995-3002, 1999.

E. Serysheva, Wnk kinases are positive regulators of canonical Wnt/?-catenin signalling, EMBO reports, vol.14, issue.8, pp.718-725, 2013.

L. Setaffy and C. Langner, Microsatellite instability in colorectal cancer: clinicopathological significance, Polish Journal of Pathology, vol.66, issue.3, pp.203-221, 2015.

H. Shen, Overexpression of RFC3 is correlated with ovarian tumor development and poor prognosis, Tumor Biology, vol.35, pp.10259-10266, 2014.

H. Shen, ShRNA-mediated silencing of the RFC3 gene suppress ovarian tumor cells 169 proliferation, International Journal of Clinical and Experimental Pathology, pp.8968-8975, 2015.

J. Shia, Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer, vol.27, pp.1407-1417, 2003.

J. Shia, Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry, The Journal of molecular diagnostics, vol.10, issue.4, pp.293-300, 2008.

K. Shitoh, Frequent activation of the beta-catenin-Tcf signaling pathway in nonfamilial colorectal carcinomas with microsatellite instability, Genes, chromosomes {{}{&}{}} cancer, vol.30, issue.1, pp.32-37, 2001.

E. A. Sia, Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae, Proceedings of the National Academy of Sciences, vol.97, pp.250-255, 2000.

R. L. Siegel, Colorectal cancer statistics, CA: A Cancer Journal for Clinicians, vol.67, issue.3, pp.177-193, 2017.

F. A. Sinicrope, DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy, Journal of the National Cancer Institute, vol.103, issue.11, pp.863-875, 2011.

F. A. Sinicrope, Prognostic impact of deficient DNA mismatch repair in patients with stage III colon cancer from a randomized trial of FOLFOX-based adjuvant chemotherapy, Journal of clinical oncology : official journal of the American Society of Clinical Oncology, vol.31, issue.29, pp.3664-3672, 2013.

L. De-smedt, Microsatellite instable vs stable colon carcinomas: analysis of tumor heterogeneity, inflammation and angiogenesis, British Journal of Cancer, vol.113, issue.3, pp.500-509, 2015.

C. G. Smith, Somatic profiling of the epidermal growth factor receptor pathway in tumors from patients with advanced colorectal cancer treated with chemotherapy ± cetuximab, vol.19, pp.4104-4117, 2013.

L. H. Sobin and C. C. Compton, TNM seventh edition: What's new, what's changed', Cancer, vol.116, pp.5336-5339, 2010.

Z. K. Stadler, Reliable detection of mismatch repair deficiency in colorectal cancers using mutational load in next-generation sequencing panels, Journal of Clinical Oncology, vol.34, issue.18, pp.2141-2147, 2016.

B. S. Strauss, D. Sagher, and S. Acharya, Role of proofreading and mismatch repair in maintaining the stability of nucleotide repeats in DNA, Nucleic Acids Research, vol.25, issue.4, pp.806-813, 1997.

M. ?tros, HMGB proteins: Interactions with DNA and chromatin, Biochimica et Biophysica Acta-Gene Regulatory Mechanisms, pp.101-113, 2010.

S. Subramanian, R. K. Mishra, and L. Singh, Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions, Genome biology, vol.4, p.170, 2003.

, , p.13

X. Sun, Down-regulation of WNK1 protein kinase in neural progenitor cells suppresses cell proliferation and migration, Journal of Neurochemistry, vol.99, issue.4, pp.1114-1121, 2006.

N. Suraweera, Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR, Gastroenterology, vol.123, issue.6, pp.1804-1811, 2002.

M. Svrcek and J. Fléjou, Le « tumor budding » ou bourgeonnement tumoral dans les cancers colorectaux, Cancéro digest, vol.4, issue.3, 2012.

D. P. Tabassum and K. Polyak, Tumorigenesis: it takes a village', Nature Reviews Cancer, vol.15, issue.8, pp.473-483, 2015.

A. Tajima, The mismatch repair complex hMutS-alpha recognizes 5-fluorouracilmodified DNA: Implications for chemosensitivity and resistance, Gastroenterology, vol.127, issue.6, pp.1678-1684, 2004.

S. N. Thibodeau, Microsatellite instability in colorectal cancer: Different mutator phenotypes and the principal involvement of hMLH1, Cancer Research, vol.58, issue.8, pp.1713-1718, 1998.

S. N. Thibodeau, G. Bren, and D. Schaid, Microsatellite instability in cancer of the proximal colon, Science, vol.260, pp.816-819, 1993.

L. Thorstensen, Genetic and epigenetic changes of components affecting the WNT pathway in colorectal carcinomas stratified by microsatellite instability, Neoplasia, vol.7, issue.2, pp.99-108, 2005.

M. Tijsterman, J. Pothof, and R. H. Plasterk, Frequent germline mutations and somatic repeat instability in DNA mismatch-repair-deficient Caenorhabditis elegans, Genetics, vol.161, issue.2, pp.651-660, 2002.

B. Timmermann, Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis, PLoS ONE, issue.12, p.5, 2010.

L. A. Torre, CA: a cancer journal of clinicians, vol.65, pp.87-108, 2012.

G. Tóth, Microsatellites in different eukaryotic genomes: survey and analysis, Genome research, vol.10, pp.967-981, 2000.

D. Tougeron, Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations, Modern Pathology, vol.22, pp.1186-1195, 2009.

D. Tougeron, Efficacy of adjuvant chemotherapy in colon cancer with microsatellite instability: A large multicenter AGEO study, Journal of the National Cancer Institute, issue.7, p.108, 2016.

M. Toyota, CpG island methylator phenotype in colorectal cancer, Medical Sciences, vol.96, pp.8681-8686, 1999.

S. Tuupanen, Identification of 33 candidate oncogenes by screening for base-specific mutations, Br J Cancer, vol.111, issue.8, pp.1657-1662, 2014.

N. Valeri, MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2), Proceedings of the National Academy of Sciences, vol.107, pp.21098-21103, 2010.

N. Valeri, Modulation of mismatch repair and genomic stability by miR-155, Proceedings of the National Academy of Sciences of the United States of America, vol.107, pp.6982-6989, 2010.

M. L. Veigl, Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers, Proceedings of the National Academy of Sciences of the United States of America, vol.95, pp.8698-702, 1998.

S. Venderbosch, Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: A pooled analysis of the CAIRO, CAIRO2, COIN, and FOCUS studies, Clinical Cancer Research, vol.20, issue.20, pp.5322-5330, 2014.

A. P. Venook, Effect of First-Line Chemotherapy Combined With Cetuximab or Bevacizumab on Overall Survival in Patients With KRAS Wild-Type Advanced or Metastatic Colorectal Cancer, JAMA, issue.23, p.2392, 2017.

E. Vilar, Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines, British journal of cancer, vol.99, issue.10, pp.1607-1612, 2008.

E. Vilar, MRE11 deficiency increases sensitivity to poly(ADP-ribose) polymerase inhibition in microsatellite unstable colorectal cancers, Cancer Research, vol.71, issue.7, pp.2632-2642, 2011.

E. Vilar and S. B. Gruber, Microsatellite instability in colorectal cancer-the stable evidence, Nat Rev Clin Oncol, vol.7, issue.3, pp.153-62, 2010.

B. Vogelstein, Cancer Genome Landscapes, Science, issue.6127, pp.1546-1558, 2013.

J. Wang, Demonstration that mutation of the type II transforming growth factor ? receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells, Journal of Biological Chemistry, vol.270, issue.37, pp.22044-22049, 1995.

L. Wang, BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair, Cancer research, vol.63, issue.17, pp.5209-5212, 2003.

R. Ward, Microsatellite instability and the clinicopathological features of sporadic colorectal cancer, Gut, vol.48, issue.6, pp.821-830, 2001.

A. S. Warthin, Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 18951913. By Aldred Scott Warthin, CA: a cancer journal for clinicians, vol.35, issue.6, pp.348-59, 1913.

P. Watson, The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome, International Journal of Cancer, vol.123, issue.2, pp.444-449, 2008.

I. B. Weinstein, CANCER: Enhanced: Addiction to Oncogenes-the Achilles Heal of Cancer, p.172, 2002.

, Science, vol.297, issue.5578, pp.63-64

I. B. Weinstein, A. Joe, and D. Felsher, Oncogene Addiction, Cancer Research, vol.68, issue.9, pp.3077-3080, 2008.

H. Westdorp, Opportunities for immunotherapy in microsatellite instable colorectal cancer, Cancer Immunology, Immunotherapy, pp.1249-1259, 2016.

S. M. Woerner, Systematic identification of genes with coding microsatellites mutated in DNA mismatch repair-deficient cancer cells, International Journal of Cancer, vol.93, issue.1, pp.12-19, 2001.

S. M. Woerner, Pathogenesis of DNA repair-deficient cancers: a statistical metaanalysis of putative Real Common Target genes, Oncogene, vol.22, issue.15, pp.2226-2235, 2003.

S. M. Woerner, Microsatellite instability of selective target genes in HNPCC-associated colon adenomas, Oncogene, vol.24, issue.15, pp.2525-2535, 2005.

S. M. Woerner, SelTarbase, a database of human mononucleotide-microsatellite mutations and their potential impact to tumorigenesis and immunology, Nucleic Acids Research, vol.38, issue.1, 2009.

L. D. Wood, The genomic landscapes of human breast and colorectal cancers, Science, issue.5853, pp.1108-1121, 2007.

H. Yamamoto and K. Imai, Microsatellite instability: an update', Archives of Toxicology, pp.899-921, 2015.

Z. Yao, shRNA-mediated silencing of the RFC3 gene suppresses hepatocellular carcinoma cell proliferation, International journal of molecular medicine, vol.36, issue.5, pp.1393-1399, 2015.

K. Yoon, Comprehensive genome-and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers, Genome Research, vol.23, issue.7, pp.1109-1117, 2013.

J. Young, Features of Colorectal Cancers with High-Level Microsatellite Instability Occurring in Familial and Sporadic Settings, The American Journal of Pathology, vol.159, issue.6, pp.63062-63065, 2001.

Z. Yuan, An A13 repeat within the 3?-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression, Cancer Research, vol.69, issue.19, pp.7811-7818, 2009.

. Zaanan, Defective Mismatch Repair Status as a Prognostic Biomarker of DiseaseFree Survival in Stage III Colon Cancer Patients Treated with Adjuvant FOLFOX Chemotherapy, Clinical Cancer Research, vol.17, issue.23, pp.7470-7478, 2011.