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Search Results: 1 - 10 of 474 matches for " Fabienne Lesueur "
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ADAM33, a New Candidate for Psoriasis Susceptibility
Fabienne Lesueur, Tiphaine Oudot, Simon Heath, Mario Foglio, Mark Lathrop, Jean-Fran?ois Prud'homme, Judith Fischer
PLOS ONE , 2007, DOI: 10.1371/journal.pone.0000906
Abstract: Psoriasis is a chronic skin disorder with multifactorial etiology. In a recent study, we reported results of a genome-wide scan on 46 French extended families presenting with plaque psoriasis. In addition to unambiguous linkage to the major susceptibility locus PSORS1 on Chromosome 6p21, we provided evidence for a susceptibility locus on Chromosome 20p13. To follow up this novel psoriasis susceptibility locus we used a family-based association test (FBAT) for an association scan over the 17 Mb candidate region. A total of 85 uncorrelated SNP markers located in 65 genes of the region were initially investigated in the same set of large families used for the genome wide search, which consisted of 295 nuclear families. When positive association was obtained for a SNP, candidate genes nearby were explored more in detail using a denser set of SNPs. Thus, the gene ADAM33 was found to be significantly associated with psoriasis in this family set (The best association was on a 3-SNP haplotype P = 0.00004, based on 1,000,000 permutations). This association was independent of PSORS1. ADAM33 has been previously associated with asthma, which demonstrates that immune system diseases may be controlled by common susceptibility genes with general effects on dermal inflammation and immunity. The identification of ADAM33 as a psoriasis susceptibility gene identified by positional cloning in an outbred population should provide insights into the pathogenesis and natural history of this common disease.
Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort
Elizabeth M Azzato, Kristy E Driver, Fabienne Lesueur, Mitul Shah, David Greenberg, Douglas F Easton, Andrew E Teschendorff, Carlos Caldas, Neil E Caporaso, Paul DP Pharoah
Breast Cancer Research , 2008, DOI: 10.1186/bcr2100
Abstract: We examined associations between common germline genetic variation in 13 genes involved in cell cycle control (CCND1, CCND2, CCND3, CCNE1, CDK2 [p33], CDK4, CDK6, CDKN1A [p21, Cip1], CDKN1B [p27, Kip1], CDKN2A [p16], CDKN2B [p15], CDKN2C [p18], and CDKN2D [p19]) and survival among women diagnosed with invasive breast cancer participating in the SEARCH (Studies of Epidemiology and Risk factors in Cancer Heredity) breast cancer study. DNA from up to 4,470 women was genotyped for 85 polymorphisms that tag the known common polymorphisms (minor allele frequency > 0.05) in the genes. The genotypes of each polymorphism were tested for association with survival using Cox regression analysis.The rare allele of the tagging single nucleotide polymorphism (SNP) rs2479717 is associated with an increased risk of death (hazard ratio = 1.26 per rare allele carried, 95% confidence interval: 1.12 to 1.42; P = 0.0001), which was not attenuated after adjusting for tumour stage, grade, and treatment. This SNP is part of a large linkage disequilibrium block, which contains CCND3, BYSL, TRFP, USP49, C6ofr49, FRS3, and PGC. We evaluated the association of survival and somatic expression of these genes in breast tumours using expression microarray data from seven published datasets. Elevated expression of the C6orf49 transcript was associated with breast cancer survival, adding biological interest to the finding.It is possible that CCND3 rs2479717, or another variant it tags, is associated with prognosis after a diagnosis of breast cancer. Further study is required to validate this finding.Excluding non-melanoma skin cancer, breast cancer is the most common cancer in the UK, with 36,939 new cases diagnosed in 2004 [1]. The prognosis of breast cancer is generally good, with an overall 5-year survival rate of approximately 80% in England and Wales [2]. Clinical stage at diagnosis, including tumour size, lymph node status, and presence of metastases, along with tumour biological factors such a
Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case–control study
Patrick R Benusiglio, Fabienne Lesueur, Craig Luccarini, Donald M Conroy, Mitul Shah, Douglas F Easton, Nick E Day, Alison M Dunning, Paul D Pharoah, Bruce AJ Ponder
Breast Cancer Research , 2005, DOI: 10.1186/bcr982
Abstract: We aimed to determine if common polymorphisms (frequency ≥ 5%) in ERBB2 were associated with breast cancer risk in a white British population. Five single-nucleotide polymorphisms (SNPs) were selected for study: SNP 1 near the promoter, SNP 2 in intron 1, SNP 3 in intron 4, SNP 4 in exon 17 (I655V), and SNP 5 in exon 27 (A1170P). We tested their association with breast cancer in a large case–control study (n = 2192 cases and 2257 controls).There were no differences in genotype frequencies between cases and controls for any of the SNPs examined. To investigate the possibility that a common polymorphism not included in our study might be involved in breast cancer predisposition, we also constructed multilocus haplotypes. Our set of SNPs generated all existing (n = 6) common haplotypes and no differences were seen in haplotype frequencies between cases and controls (P = 0.44).In our population, common ERBB2 polymorphisms are not involved in predisposition to breast cancer.Breast cancer is the most common cause of cancer in women in the United Kingdom and is, after lung cancer, the most common cause of cancer death (Office for National Statistics). Positive family history is a well-established risk factor for the disease: the risk to first-degree relatives of a breast cancer case is about twice the population risk [1]. Most of the excess familial risk associated with breast cancer is likely to be genetic in origin [2,3]. However, only about a third of this risk is accounted for by known genes, the most important being BRCA1 and BRCA2, while the remainder might be explained by a combination of weakly predisposing alleles [2-4]. A gene thought to be involved in low-level susceptibility to breast cancer is ERBB2 (HER2). This gene is located on chromosome 17q12–q21, spans 38 kilobases, and comprises 27 coding exons. It is a member of the ERBB family, a family of protein tyrosine kinases involved in cell division, migration, adhesion, differentiation, and apoptosis and consi
Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs
Patrick R Benusiglio, Fabienne Lesueur, Craig Luccarini, Joan McIntosh, Robert N Luben, Paula Smith, Alison Dunning, Douglas F Easton, Bruce AJ Ponder, Paul D Pharoah
BMC Cancer , 2005, DOI: 10.1186/1471-2407-5-81
Abstract: We used a genetic association study design to determine if common genetic variation (frequency ≥ 5%) in EMSY was associated with breast or ovarian cancer risk in the British population. Haplotype tagging single-nucleotide polymorphisms (htSNPs) were selected from the HapMap database and genotyped using Taqman? in two large study sets of white British women (n [breast set] = 2343 cases and 2284 controls, n [ovarian set] = 864 cases and 864 controls). HapMap data might be insufficient to tag genetic variation in EMSY comprehensively. We therefore screened the gene promoter and coding sequences with denaturing high performance liquid chromatography in order to identify additional SNPs that are most likely to be functional.HapMap data on 22 SNPs show that 4 htSNPs tag 4 common haplotypes: rs2282611 (5'up t>g), rs4245443 (IVS7 g>a), rs2513511 (IVS16 a>g), rs2155220 (3'down c>t). We observed no association between any of the genotypes or associated haplotypes and breast or ovarian cancer risk. Seventeen out of the 18 remaining HapMap polymorphisms (94%) were well tagged by the 4 selected htSNPs (r2s > 0.8). Genotype frequencies for two further SNPs identified by screening and located near exon-intron boundaries, rs2508740 (IVS9 a>g) and rs11600501 (IVS10 c>t), were also similar in cases and controls. In order to simulate unidentified SNPs, we performed the leave-one-out cross-validation procedure on the HapMap data; over 95% of the common genetic variation was well represented by tagging polymorphisms. We are therefore likely to have tagged any common, functional variants present in our population.We found no association between common genetic variation in EMSY and risk of breast or ovarian cancer in two large study sets of white British women.Breast and ovarian cancer are two of the most common causes of cancer in women in the United Kingdom (Office for National Statistics). Together, they account for about a third of all new cancer cases and a quarter of cancer deaths.
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus
Sonia Garritano, Federica Gemignani, Catherine Voegele, Tú Nguyen-Dumont, Florence Le Calvez-Kelm, Deepika De Silva, Fabienne Lesueur, Stefano Landi, Sean V Tavtigian
BMC Genetics , 2009, DOI: 10.1186/1471-2156-10-5
Abstract: High-resolution SNP profile and/or haplotype analyses enable the identification of modest-risk susceptibility genes to common diseases, genes that may modulate responses to pharmaceutical agents, and SNPs that can affect either their expression or function. In addition, sensitive techniques for germline or somatic mutation detection are important tools for characterizing sequence variations in genes responsible for tumor predisposition. Cost-effective methods are highly desirable. Many of the recently developed high-throughput technologies are geared toward industrial scale genetic studies and arguably do not provide useful solutions for small laboratory investigator-initiated projects. Recently, the use of new fluorescent dyes allowed the high-resolution analysis of DNA melting curves (HRM).Here, we compared the capacity of HRM, applicable to both genotyping and mutation scanning, to detect genetic variations in the tumor suppressor gene TP53 with that of mutation screening by full resequencing. We also assessed the performance of a variety of available HRM-based genotyping assays by genotyping 30 TP53 SNPs. We describe a series of solutions to handle the difficulties that may arise in large-scale application of HRM to mutation screening and genotyping at the TP53 locus. In particular, we developed specific HRM assays that render possible genotyping of 2 or more, sometimes closely spaced, polymorphisms within the same amplicon. We also show that simultaneous genotyping of 2 SNPs from 2 different amplicons using a multiplex PCR reaction is feasible; the data can be analyzed in a single HRM run, potentially improving the efficiency of HRM genotyping workflows.The HRM technique showed high sensitivity and specificity (1.0, and 0.8, respectively, for amplicons of <400 bp) for mutation screening and provided useful genotyping assays as assessed by comparing the results with those obtained with Sanger sequencing. Thus, HRM is particularly suitable for either performing m
Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2
Tú Nguyen-Dumont, Lars P Jordheim, Jocelyne Michelon, Nathalie Forey, Sandrine McKay-Chopin, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Olga Sinilnikova, Florence Le Calvez-Kelm, Melissa C Southey, Sean V Tavtigian, Fabienne Lesueur
BMC Medical Genomics , 2011, DOI: 10.1186/1755-8794-4-39
Abstract: We implemented an assay based on high-resolution melting (HRM) curve analysis and developed an analysis tool for DAE assessment.We observed allelic expression imbalance in 4 of the 41 LCLs examined. All four were carriers of the truncating mutation 1100delC. We confirmed previous findings that this mutation induces non-sense mediated mRNA decay. In our series, we ruled out the possibility of a functional sequence variant located in the promoter region or in a regulatory element of CHEK2 that would lead to DAE in the transcriptional regulatory milieu of freely proliferating LCLs.Our results support that HRM is a sensitive and accurate method for DAE assessment. This approach would be of great interest for high-throughput mutation screening projects aiming to identify genes carrying functional regulatory polymorphisms.The CHEK2 gene (cell cycle checkpoint kinase 2) is a multiorgan tumour susceptibility gene involved in the maintenance of genomic stability. CHEK2 functions downstream of ATM (Ataxia-telangiectasia mutated) to phosphorylate several substrates, including TP53 (Tumour protein p53), Cdc25C (Cell division cycle 25C) and BRCA1 (Breast cancer 1, early onset), leading to cell cycle arrest, activation of DNA repair or apoptosis in response to DNA double-stranded breaks. Since CHEK2 plays a key role in the DNA damage pathway, loss of function of the protein may allow cells to evade normal cell cycle checkpoints, ultimately leading to tumour initiation or progression. The CHEK2*1100delC deletion, falling in the kinase domain of the protein, has been widely studied for its contribution to inherited breast cancer susceptibility [1]. This mutation induces a premature stop codon in exon 10, and causes the truncation of the protein at codon 381 thus abrogating its kinase activity. The frequency of CHEK2*1100delC differs between ethnic populations, and is higher in the North of Europe and low or absent in other countries [2].The CHEK2-Breast Cancer Consortium reported a
Integrative Genome-Wide Gene Expression Profiling of Clear Cell Renal Cell Carcinoma in Czech Republic and in the United States
Magdalena B. Wozniak, Florence Le Calvez-Kelm, Behnoush Abedi-Ardekani, Graham Byrnes, Geoffroy Durand, Christine Carreira, Jocelyne Michelon, Vladimir Janout, Ivana Holcatova, Lenka Foretova, Antonin Brisuda, Fabienne Lesueur, James McKay, Paul Brennan, Ghislaine Scelo
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0057886
Abstract: Gene expression microarray and next generation sequencing efforts on conventional, clear cell renal cell carcinoma (ccRCC) have been mostly performed in North American and Western European populations, while the highest incidence rates are found in Central/Eastern Europe. We conducted whole-genome expression profiling on 101 pairs of ccRCC tumours and adjacent non-tumour renal tissue from Czech patients recruited within the “K2 Study”, using the Illumina HumanHT-12 v4 Expression BeadChips to explore the molecular variations underlying the biological and clinical heterogeneity of this cancer. Differential expression analysis identified 1650 significant probes (fold change ≥2 and false discovery rate <0.05) mapping to 630 up- and 720 down-regulated unique genes. We performed similar statistical analysis on the RNA sequencing data of 65 ccRCC cases from the Cancer Genome Atlas (TCGA) project and identified 60% (402) of the downregulated and 74% (469) of the upregulated genes found in the K2 series. The biological characterization of the significantly deregulated genes demonstrated involvement of downregulated genes in metabolic and catabolic processes, excretion, oxidation reduction, ion transport and response to chemical stimulus, while simultaneously upregulated genes were associated with immune and inflammatory responses, response to hypoxia, stress, wounding, vasculature development and cell activation. Furthermore, genome-wide DNA methylation analysis of 317 TCGA ccRCC/adjacent non-tumour renal tissue pairs indicated that deregulation of approximately 7% of genes could be explained by epigenetic changes. Finally, survival analysis conducted on 89 K2 and 464 TCGA cases identified 8 genes associated with differential prognostic outcomes. In conclusion, a large proportion of ccRCC molecular characteristics were common to the two populations and several may have clinical implications when validated further through large clinical cohorts.
Gender and Sexual Abuses during the Italian Colonization of Ethiopia and Eritrea
The “Insabbiatti”, Thirty Years after
 [PDF]

Fabienne Le Houérou
Sociology Mind (SM) , 2015, DOI: 10.4236/sm.2015.54023
Abstract: This paper explores the singular role of cross-cultural couples of Italian men and Abyssinian women during the fascist colonies in East Africa (Eritrea and Ethiopia). This article is based on an inquiry driven ethno-historical research conducted 30 years ago in Ethiopia among ex-Italian colonial actors in Ethiopia and their concubines. These ex-colons were calling themselves insabbiatti a very original term locally employed. To be an insabbiatto is to be stuck, shipwrecked, stranded in the sand. It means to be forgotten in Far-South Italian colonies (such as East Africa or Libya).
The Tibetan Ethnic Enclave in New Delhi a Visual Perspective  [PDF]
Fabienne Le Houérou
Sociology Mind (SM) , 2018, DOI: 10.4236/sm.2018.83016
Abstract: This article aims to explore the Tibetan Diaspora in India in one site. We will focus on Majnu Ka Tilla in New Delhi. This paper is based on an inquiry driven qualitative study. It will not give a total and exhaustive vision of the entire refugee population in Majnu Ka Tilla but will offer selected testimonies chosen for their high heuristic value to explore the connection between space and its social construction by the refugees highlighting the notion of “ethnic enclave” (Portes & Wilson, 1980). The narratives collected are genderly oriented as we selected feminine narrations related to the representation of space. We will discuss the heuristic value of visual methodologies such as photography, auto-photography, photovoice and participant camera. Two documentaries were shot in 2008 and 2011 in the Tibetan Diaspora in India focusing on gender issues and the place of women inside the Tibetan community (Le Houérou, 2008, 2014). These non broadcasted and non-commercial movies with an ethnographic intention are available on line with a free access on Dailymotion (links http://www.dailymotion.com/video/xd94rf_les-sabots-roses-du-bouddha-webdoc_news and: http://www.dailymotion.com/video/x2g236p). The two films are both exploring the singular position of women in the Tibetan Diaspora in India stressing on their economical activity for the first one and social marginality for the second one highlighting the notion of Tibetanness in exile in a specific location. How a location can shape a diasporic memory and collective identity?
Indéfini, modalité et généricité dans la Déclaration des Droits de l’Homme Indefinites, Modality and Genericity in the Declaration of Human Rights
Fabienne Martin
Argumentation et Analyse du Discours , 2010,
Abstract: Comme beaucoup de textes de nature juridique, la Déclaration universelle des Droits de l’Homme est composée de phrases génériques oscillant entre les genres descriptif et prescriptif. Cet article étudie les effets argumentatifs des déterminants choisis - en particulier la préférence pour le terme de choix libre tout - ainsi que de l’indicatif présent prescriptif, qui investit l’énoncé d'une modalité déontique tout en se présentant comme un énoncé non-modalisé. En particulier, on cherche à expliquer pourquoi, avec certains types de prédicats et pas d’autres, les énoncés à indicatif présent prescriptif déclenchent une implication factuelle. Like many texts of juridical nature, the Universal Declaration of Human Rights is composed of generic sentences oscillating between the descriptive and the prescriptive genres. This paper studies the rhetorical effects of the determiners chosen – in particular the preference of the Free Choice Item tout – and the ‘prescriptive present indicativ’, which endows the sentence with a deontic modality while presenting itself as a non-modalized sentence. In particular, the author explains why the utterances with a prescriptive indicative present trigger an ‘actuality entailment’ with some predicates and not with others.
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