Affiliation: Fondation Jean Dausset
- MBD4 mutations are rare in gastric carcinomas with microsatellite instabilityMafalda Pinto
IPATIMUP Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
Cancer Genet Cytogenet 145:103-7. 2003..We conclude that MBD4 mutations in the entire coding sequence, including the two poly(A) tracts, are rare in MSI gastric carcinomas. MBD4 is likely to be a bystander target gene in MSI-H tumors...
- [Clinical and molecular consequences of microsatellite instability in human cancers]Richard Hamelin
INSERM, UMRS 762, 27 rue Juliette Dodu, 75010 Paris, France
Bull Cancer 95:121-32. 2008..All these points will be discussed in details in the present review...
- A CpG island hypermethylation profile of primary colorectal carcinomas and colon cancer cell linesGuro E Lind
Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, 0310 Oslo, Norway
Mol Cancer 3:28. 2004..We compared the DNA methylation profiles of the cell lines with those of the primary tumors. Finally, we examined if the epigenetic changes were associated with known genetic markers and/or clinicopathological variables...
- BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?Sergia Velho
Institute of Molecular Pathology and Immunology, University of Porto, Portugal
BMC Cancer 8:255. 2008..In the series of polyps CIMP, MLH1 methylation and MSI were also studied...
- An immunogenic process leading to cancer in the context of immunodeficiencyRichard Hamelin
INSERM U434, Paris, France
Cell Cycle 3:1130-2. 2004..Specific attention to the host immune system should thus be considered in the treatment of patients with MSI tumors...
- Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markersYick Fu Wong
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N T, Hong Kong, China and Inserm, U762, Paris, F 75010 France, Univ Paris 6, Paris, F 75005 France
Carcinogenesis 27:951-5. 2006..As demonstrated previously in gastric and colon MSI cases, the pentaplex PCR reaction using mononucleotide repeats is thus an easier and more sensitive method than the NCI panel, for the screening of MSI status in endometrial tumors...
- Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumorsOlivier Buhard
Institut National de la Santé et de la Recherche Médicale U434, Centre d Etude du Polymorphisme Humain, Paris, France
J Clin Oncol 24:241-51. 2006..Moreover, these markers are quasimonomorphic in germline DNA of the white population (ie, individuals of Eurasian origin), and could be used for tumor MSI determination without the requirement for matching normal DNA in this group...
- The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasmsClaire Borie
INSERM, UMR_S 938, Team Microsatellite Instability and Cancers, Paris, France
Int J Cancer 125:2360-6. 2009..They give the exact way how to make the diagnosis of MSI in these tumors and may help to define biological and clinicalrisk factors associated with their emergence in such a clinicalcontext...
- Mononucleotide repeats BAT-26 and BAT-25 accurately detect MSI-H tumors and predict tumor content: implications for population screeningCaroline Brennetot
INSERM U434, Centre d Etudes du Polymorphisme Humain, Paris, France
Int J Cancer 113:446-50. 2005..Our results have implications for large-scale screening of cancer patients to determine MSI-H status and prognosis...
- Specific clinical and biological features characterize inflammatory bowel disease associated colorectal cancers showing microsatellite instabilityMagali Svrcek
Assistance Publique Hopitaux de Paris AP HP, Hopital Saint Antoine, Service d Anatomie Pathologique, Paris, France
J Clin Oncol 25:4231-8. 2007..We investigated a large series of IBD-N for associations between MSI and several biologic and clinical parameters related to tumors, patients, and their treatment...
- [Analysis of the microsatellite instability gene mutation in the urothelial tumor of the upper urinary tract]Pierre Mongiat-Artus
Service d Urologie, Universite Paris VII, Hopital Saint Louis, Paris, France
Prog Urol 15:1286-92. 2005
- Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancersJamila El-Bchiri
INSERM U434, Hopital Saint Louis, Paris, France
Hum Mol Genet 14:2435-42. 2005..We thus propose that NMD might play an important role in the selection of target gene mutations with a functional role in MSI-H carcinogenesis...
- Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysisOlivier Buhard
INSERM U434, CEPH, Paris, France
Dis Markers 20:251-7. 2004..We have already proposed a pentaplex MSI screening test comprising 5 quasimonomorphic mononucleotide repeats. This article compares the advantages of mono or dinucleotide repeats in determining microsatellite instability...
- [Replication error repair, microsatellites, and cancer]Alex Duval
INSERM U 434, CEPH, 27, rue Juliette Dodu, 75010 Paris, France
Med Sci (Paris) 19:55-62. 2003..We provide here an overview of the genetic changes that occur in MSI-H tumors and that appear to constitute a new genetic mutator pathway leading a normal cell to become malignant...
- Screening for Lynch syndrome in colorectal cancer: are we doing enough?Guillaume Canard
Department of Digestive Surgery, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
Ann Surg Oncol 19:809-16. 2012..The purpose of this study was to assess the efficacy of screening for the detection of Lynch syndrome (LS) in an unselected population undergoing surgery for a colorectal cancer...
- Chromosomal instability in near-diploid colorectal cancer: a link between numbers and structureMartine Muleris
French National Institute for Health and Medical Research INSERM, UMRS_762, Centre de Recherche CDR Saint Antoine, Paris, France
PLoS ONE 3:e1632. 2008....
- Lynch or not Lynch? Is that always a question?Chrystelle Colas
INSERM, UMRS 938, Centre de Recherche Saint Antoine, Equipe Instabilité des Microsatellites et Cancers, Paris, France
Adv Cancer Res 113:121-66. 2012..LS tumors are therefore at the junction of inherited and MSI cases. We describe here the defining characteristics of LS tumors that differentiate them from inherited non-MSI tumors and from non-inherited MSI tumors...
- MiRNA genes constitute new targets for microsatellite instability in colorectal cancerNizar El-Murr
INSERM, UMRS 938 Centre de Recherche Saint Antoine, Equipe Instabilité des Microsatellites et Cancers, Paris, France
PLoS ONE 7:e31862. 2012..Functional studies are now required to conclude whether mutated miRNAs, and especially the miR-1303, might have a role in MSI tumorigenesis...
- Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCRNirosha Suraweera
INSERM U434, Centre d Etudes du Polymorphisme Humain, Paris, France
Gastroenterology 123:1804-11. 2002..Analysis of BAT-26 is sufficient for detecting the MSI phenotype in most, but not all, cases. Additional results with dinucleotide markers can sometimes lead to incorrect classification of MSI tumors...
- Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instabilityAlex Duval
Institut National de la Santé et de la Recherche Médicale U434 CEPH, 75010 Paris, France
Cancer Res 62:2447-54. 2002..In light of these recent data, the concept of target genes for instability and their possible role in MSI-H cancers is reconsidered here...
- Genetic instability in human mismatch repair deficient cancersAlex Duval
INSERM U434 CEPH, 27, rue Juliette Dodu, 75010, Paris, France
Ann Genet 45:71-5. 2002..This mechanism appears to be the main "genetic pathway" by which functional changes with putative oncogenic effects are accumulated in these tumors...
- Comparative analysis of mutation frequency of coding and non coding short mononucleotide repeats in mismatch repair deficient colorectal cancersAlex Duval
INSERM U434, CEPH, Paris, France
Oncogene 21:8062-6. 2002..It should allow identification of those that are genuinely selected for during MSI-H tumoral progression from others that play a less important role, if any, in MSI-H carcinogenesis...
- HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancerOlivier Buhard
INSERM, UMRS 938 Centre de Recherche Saint Antoine, Equipe Instabilité des Microsatellites et Cancers, Equipe Labellisée par la Ligue Nationale Contre le Cancer, Paris, France Université Pierre et Marie Curie, Paris, France
J Med Genet 53:377-84. 2016....
- Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating AgentsSahra Bodo
INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France UPMC Univ Paris, Paris, France
Gastroenterology 149:1017-29.e3. 2015..We investigated whether these features could be used to identify patients with CMMRD...
- Cytoplasmic phospholipase A2 expression in human colon adenocarcinoma is correlated with cyclooxygenase-2 expression and contributes to prostaglandin E2 productionValentine Panel
INSERM, UMR S538, Paris, F 75012 France
Cancer Lett 243:255-63. 2006..cPLA2 expression is correlated with COX-2 expression. Both cPLA2 and COX-2 expressions are important in regard to PGE2 production. Our data suggest that cPLA2 might be involved in colon tumor development...
- Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiencyAlex Duval
INSERM U434 CEPH, 75010 Paris, France
Cancer Res 62:1609-12. 2002..Our results show that the profile of target gene mutations in MSI-H tumors is tissue specific, with both qualitative and quantitative differences between gastrointestinal and endometrial MSI-H cancers...
- The mutator pathway is a feature of immunodeficiency-related lymphomasAlex Duval
Institut National de la Santé et de la Recherche Médicale U434, Centre d Etude du Polymorphisme Humain, 75010 Paris, France
Proc Natl Acad Sci U S A 101:5002-7. 2004..Because MSI-H-positive cases were found to be either Epstein-Barr virus-positive or -negative, the mutator pathway should act synergistically or not with this other oncogenic factor, playing an important role in ID-RL...
- Infrequent microsatellite instability in urothelial cell carcinoma of the bladder in young patientsPierre Mongiat-Artus
Department of Urology, Saint Louis Hospital and University Paris VII, Paris, France
Eur Urol 49:685-90. 2006..In this study, we have evaluated the occurrence of MSI in primary bladder UCC arising in seventeen young patients selected for being below 45 years of age at diagnosis...
- Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivationEnric Domingo
Molecular Pathology Program, Centre d Investigacions en Bioquimica i Biologia Molecular, Barcelona, Spain
Genes Chromosomes Cancer 39:138-42. 2004....
- Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation statusCarla Oliveira
Institute of Molecular Pathology and Immunology, The University of Porto, IPATIMUP, 4200 465 Porto, Portugal
Hum Mol Genet 13:2303-11. 2004....
- RAB32 hypermethylation and microsatellite instability in gastric and endometrial adenocarcinomasDavid Shibata
Division of Gastrointestinal Oncology, Department of Interdisciplinary Oncology, H Lee Moffitt Cancer Center and Research Institute, University of South Florida College of Medicine, Tampa, FL 33612, USA
Int J Cancer 119:801-6. 2006..Given its similar involvement in colon cancer, RAB32 inactivation may represent a component of the oncogenic pathway of microsatellite-unstable gastrointestinal adenocarcinomas...
- [Microsatellite instability: a new mechanism of carcinogenesis associated with immunodepression in non Hodgkin lymphomas in humans]Claire Borie
Med Sci (Paris) 20:641-2. 2004
- Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancerCarla Oliveira
Institute of Molecular Pathology and Immunology of the University of Porto, Rua Roberto Frias s n, Porto 4200 465, Portugal
Oncogene 24:7630-4. 2005....
- The prevalence of PIK3CA mutations in gastric and colon cancerSergia Velho
Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Portugal
Eur J Cancer 41:1649-54. 2005..016). In colorectal carcinoma, PIK3CA mutations occur preferentially together with activating KRAS-BRAF mutations (MSI and MSS) while in gastric carcinomas PIK3CA mutations tend to occur as isolated events (MSI)...
- Genome signatures of colon carcinoma cell linesKristine Kleivi
Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, Ullernschauseen 70, Oslo N 0310, Norway
Cancer Genet Cytogenet 155:119-31. 2004..In conclusion, the large variation in genetic complexity of the cell lines highlights the importance of a comprehensive reference of genomic profiles for investigators engaged in functional studies using these research tools...
- Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityAsad Umar
Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Natl Cancer Inst 96:261-8. 2004....
- Frequent Ki-ras mutations in gastric tumors of the MSI phenotypeCaroline Brennetot
Gastroenterology 125:1282. 2003
- BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiencyCarla Oliveira
Instituto de Patologia e Imunologia Molecular da Universidade do Porto IPATIMUP, Porto 4200 465, Portugal
Oncogene 22:9192-6. 2003..Accordingly, our results show evidences that BRAF mutations characterize colon but not gastric tumors with MMR deficiency and are not involved in the tumorigenesis of gastric cancer of the mutator phenotype pathway...
- Tissue microarray technology: validation in colorectal carcinoma and analysis of p53, hMLH1, and hMSH2 immunohistochemical expressionFlorence Jourdan
Department of Pathology, Hopital Saint Antoine, 184 rue du Faubourg Saint Antoine, 75012 Paris, France
Virchows Arch 443:115-21. 2003..We showed that 48.5% overexpressed p53 and 8.7% lost hMLH1 or hMSH2. Tissue microarray technology, validated in colorectal carcinoma, appears as a useful research tool for rapid analysis of the clinical interest of molecular alterations...
- A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibitionSantiago Ropero
Cancer Epigenetics Laboratory, Spanish National Cancer Centre CNIO, 28029 Madrid, Spain
Nat Genet 38:566-9. 2006..As such drugs may serve as therapeutic agents for cancer, our findings support the use of HDAC2 mutational status in future pharmacogenetic treatment of these individuals...
- [Recent advances for the identification and screening of Lynch syndrome]Sylviane Olschwang
INSERM UMR599, Institut Paoli Calmettes, Marseille
Gastroenterol Clin Biol 31:136-40. 2007