Genomes and Genes
- UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome familiesPhilippe Grandval
UMR_S910, INSERM, Marseille, France
Database (Oxford) 2013:bat036. 2013..These public databases are regularly updated to improve the classification of all registered VUS, exploring their role in cancer pre-disposition based on structural and functional approaches...
- Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation CarriersSylviane Olschwang
Institut National de la Sante et de la Recherche Medicale INSERM, Unité 891, Centre de Recherches en Cancérologie de Marseille, 13009 Marseille, France
J Cancer Epidemiol 2009:791754. 2009..This difference needs to be investigated on a larger dataset. If confirmed, this would indicate that the onset of the colonoscopic surveillance may be different in male and female mutation carriers...
- Analysis of candidate genes in occurrence and growth of colorectal adenomasSylviane Olschwang
Centre de Recherche en Cancerologie de Marseille, INSERM U891, 13009 Marseille, France
J Oncol 2009:306786. 2009..04, exact test) but not its occurrence. This result needs to be replicated and genome-wide association studies may be necessary to fully identify low-penetrance alleles involved in early stages of colorectal tumorigenesis...
- 8q24 Cancer risk allele associated with major metastatic risk in inflammatory breast cancerFrancois Bertucci
Centre de Recherche en Cancerologie de Marseille, Department of Molecular Oncology, Institut Paoli Calmettes, Marseille, France
PLoS ONE 7:e37943. 2012..We investigated here two 8q24 breast and colon cancer risk alleles in the close vicinity of the MYC gene for their role in the occurrence of distant metastases...
- Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemiasJulien Rocquain
Laboratoire d Oncologie Moleculaire, UMR891 Inserm, Institut Paoli Calmettes, Centre de Recherche en Cancerologie de Marseille, Marseille, France
BMC Cancer 10:401. 2010..Gene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation...
- Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAPArnaud Lagarde
Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France
J Med Genet 47:721-2. 2010..The work presented here delineates precisely the APC mutation spectrum from 15 years of systematic molecular screening which identified 863 independent alterations in the French population...
- Mitochondrial D310 mutations in colorectal adenomas: an early but not causative genetic event during colorectal carcinogenesisAntoine Legras
INSERM, U775, Paris, France
Int J Cancer 122:2242-8. 2008..Considering their high frequency in colorectal adenomas, mitochondrial D310 mutations could represent a biomarker for early detection of CRC although their causative role in colorectal carcinogenesis remains uncertain...
- BRAF p.Val600Glu (V600E) somatic mutation is mainly associated with MSS phenotype in metastatic colorectal cancerJinghua Qiu
Institut Paoli Calmettes, Marseille, France
Cancer Genomics Proteomics 8:15-8. 2011..The impact of BRAF V600E mutation is not well documented...
- A seven-gene signature aggregates a subgroup of stage II colon cancers with stage IIISophy Laibe
Tumor Biology Department, Institut Paoli Calmettes, Marseille, France
OMICS 16:560-5. 2012..Further pharmacogenetic studies might verify this observation...
- Expression Profiles in Stage II Colon Cancer According to APC Gene StatusDavid J Birnbaum
Centre de Recherche en Cancerologie de Marseille, INSERM, UMR891, Marseille, France
Transl Oncol 5:72-6. 2012..Our results show that the determination of APC status cannot help in the prediction of metastasis and cannot be used to subclassify stage II colon cancers...
- A polymorphism of EGFR extracellular domain is associated with progression free-survival in metastatic colorectal cancer patients receiving cetuximab-based treatmentAnthony Goncalves
Department of Medical Oncology, Institut Paoli Calmettes, Marseille, France
BMC Cancer 8:169. 2008..Mutational status of KRAS and EGFR, and EGFR copy number are potential determinants of cetuximab activity...
- Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposisSylviane Olschwang
INSERM, U599, Centre de Recherches en Cancérologie de Marseille, Molecular Oncology, Marseille, F 13009 France
Genet Test 11:315-20. 2007..From age 25-30, MYH mutation carriers should be proposed an early screening program, which includes endoscopies of the upper digestive tract and the colorectum every 2 years...
- Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genesVéronique Gelsi-Boyer
Centre de Recherche en Cancerologie de Marseille, Laboratoire d Oncologie Moleculaire, UMR891 Inserm, Institut Paoli Calmettes, Marseille, France
BMC Cancer 8:299. 2008..Not much is known about the molecular biology of this disease...
- SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosisGuillaume Rousseau
Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille, France
BMC Neurol 11:9. 2011..In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were described in familial and sporadic schwannomatosis patients...
- The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variationsPhilippe Grandval
UMR_S910, INSERM, Marseille, France AP HM La Timone, Gastroenterology Department, Marseille, France
Hum Mutat 35:532-6. 2014..The UMD-APC database is thus expected to facilitate functional classification of rare synonymous, nonsynonymous, and intronic mutations and consequently improve genetic counseling and medical care in FAP families. ..
- The LKB1 complex-AMPK pathway: the tree that hides the forestMichael Sebbagh
INSERM, U891, Centre de Recherche en Cancerologie de Marseille, 27 Blv Lei Roure, 13009, Marseille, France
Fam Cancer 10:415-24. 2011..This review will discuss about LKB1 activity regulation, its effectors and clues on their involvement in cell polarity...
- [Early-onset colorectal carcinoma study]Janick Selves
J Selves Inserm U563, CPTP, CHU Purpan, BP 3028, 31024 Toulouse Cedex 3
Med Sci (Paris) 25:25-8. 2009..The next step will consist in validating a molecular signature specific for early-onset carcinoma. Genomic profile does not differ from that observed in late-onset colon cancers...
- Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemiaVéronique Gelsi-Boyer
Centre de Recherche en Cancerologie de Marseille, Département d Oncologie Moléculaire, UMR891 Inserm, Institut Paoli Calmettes, France
Br J Haematol 145:788-800. 2009..These results show that ASXL1 might play the role of a tumour suppressor in myeloid malignancies...
- [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
- Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?Philippe Grandval
Centre de Recherche en Cancerologie de Marseille, INSERM, UMR S 910, Marseille, France
Fam Cancer 11:681-3. 2012..This observation tends to exclude breast/pancreatic cancers from Lynch tumor spectrum defined by a complete loss of the MMR function in tumor cells and to support the hypothesis of another causal factor...
- Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genesAnne Etienne
UMR599 Inserm, Institut Paoli Calmettes, Laboratoire d Oncologie Moleculaire, Centre de Recherche en Cancerologie de Marseille, 232 Bd de Sainte Marguerite, 13009 Marseille, France
Cancer Genet Cytogenet 176:80-8. 2007..These results show that close examination of translocations in hematopoietic diseases may reveal associated microdeletions. The role of these deletions is discussed...
- [Genetic factors and colorectal cancers development: therapeutic impact]Sylviane Olschwang
Institut Paoli Calmettes, Centre Regional de Lutte Contre le Cancer, Provence Alpes Cote d Azur, INSERM UMR 599, Marseille, France
Med Sci (Paris) 22:45-9. 2006..Real time RT-PCR and immunohistochemical analyses will be performed on selected genes. Finally, biological mechanisms will be investigated to look for new therapeutic targets...