Letteratura scientifica selezionata sul tema "Rein – Cancer – Génétique"
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Articoli di riviste sul tema "Rein – Cancer – Génétique":
Moog, Sophie, e Judith Favier. "Rôle de la succinate déshydrogénase dans le cancer". médecine/sciences 38, n. 3 (marzo 2022): 255–62. http://dx.doi.org/10.1051/medsci/2022024.
Diallo, I., ID Diamé, C. Diouf, ST Faye, A. Thiam, A. Yaya, O. Sow, B. Fall e L. Niang. "C64: Les cancers urogénitaux en région périphérique du Sénégal : A propos de 156 cas". African Journal of Oncology 2, n. 1 Supplement (1 marzo 2022): S28. http://dx.doi.org/10.54266/ajo.2.1s.c64.lned9685.
Admin - JAIM. "Résumés des conférences JRANF 2021". Journal Africain d'Imagerie Médicale (J Afr Imag Méd). Journal Officiel de la Société de Radiologie d’Afrique Noire Francophone (SRANF). 13, n. 3 (17 novembre 2021). http://dx.doi.org/10.55715/jaim.v13i3.240.
Tesi sul tema "Rein – Cancer – Génétique":
Bigot, Pierre. "Approche génétique et protéomique de la carcinogénèse rénale". Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066077.
Kidney cancer is the 7th largest solid tumors in adults and its incidence is rising. The purpose of our research was to study renal carcinogenesis and to identify prognostic biomarkers in clear cell renal cell carcinoma.We used the isobaric tagging iTRAQ® to perform a relative quantification of kidney tumor proteins. After proteomic analysis, 928 constitutive proteins were identified and 346 had a modified expression in tumor compared with that of normal tissue. Pathway and integrated analyses indicated the presence of an up-regulation of the pentose phosphate pathway in aggressive tumors. In total, 14 proteins were excreted and could potentially become biomarkers. Among them, we confirmed that TGFBI was significantly associated with oncologic outcomes.To understand renal carcinogenesis, we investigated the 12p11.23 renal cancer susceptibility locus. The first step was to confirm this locus by an independent study. Then we performed a functional analysis of the 12p11.23 region in relation to RCC risk. Our results suggest rs7132434 is a functional SNP at 12p11.23 responsible for the GWAS RCC signal, and that this locus acts as an enhancer of SHARP1 expression by binding c-Jun. Further investigations will be necessary to understand the role of SHARP1 in renal carcinogenesis
Maubec, Eve. "Prédisposition génétique au mélanome : de la génétique à la recherche clinique". Thesis, Paris 11, 2012. http://www.theses.fr/2012PA11T034.
This thesis had two main objectives: 1) To define groups of patients which may benefit from genetic counseling by identifying predictors of mutations of the CDKN2A gene, a major gene predisposing to cutaneous melanoma (CM) in families with only two cases. 2) Epidemiological and clinical characterization of specific entities of melanoma with the secondary objective of contributing to the identification of susceptibility genes for these entities. Coexistence of CM with renal cell carcinoma and mucosal anogenital melanomas were studied.The study populations are a collection of 293 melanoma patients that were ascertained systematically and the French collection MELARISK which is a collection including over 3000 subjects drawn from families with multiple cases of melanoma or melanoma occurring in a particular context (association with another cancer, rare locations, occurrence before the age of 20, multiple sporadic melanomas).We investigated association of three clinical features with the presence of a CDKN2A mutation in a family by extent of CM family clustering (2 versus ≥3 CM patients among first-degree relatives in a family).The study was conducted in 483 French families including 387 families with two melanoma patients, and 96 families with three or more patients with melanoma. The factors examined individually and in a joint analysis in a family were: median age at diagnosis <50 years, ≥1 patient in a family with multiple primary melanomas (MPM) or with pancreatic cancer. The frequency of CDKN2A mutations was higher in F3+ families (32%) than in F2 families (13%). While early age at melanoma diagnosis and occurrence of MPM in ≥1 patient were significantly associated with the risk of a CDKN2A mutation in F2 families, early age at melanoma diagnosis and occurrence of pancreatic cancer in a family were significantly associated with CDKN2A mutations in F3+ families. Thus this study showed that clinical features associated with CDKN2A mutations vary, in France, a country of low incidence of melanoma, according to the degree of familial clustering. Identifying predictors of CDKN2A mutations in families with two melanoma cases has helped to define subgroups of families (early age at CM diagnosis, and/or ≥1 MPM patient) in which the frequency of CDKN2A mutations is above 20% such that these subgroups of F2 families should be offered genetic testing.The analysis of two series of patients, either patients with melanoma coexisting with renal cell carcinoma or patients with anogenital mucosal melanoma identified their clinical and histological features by comparing them to a series of melanomas that were ascertained systematically. In both series, our results suggested a genetic predisposition at least partly independent of CDKN2A. The study of the c renal cell carcinoma; coexistence of CM and renal cancer in the same patient had two practical consequences for clinicians: it suggests the interest of a dermatologic screening visit in patients with renal cell carcinoma and that abdominal ultrasonography or computed tomography scanning performed at the initial workup and during the follow-up of patients with CM may be of value for the early detection of renal cancer. Regarding genetic research, this series has contributed to the identification of a germline mutation in the MITF gene that increases the risk of developing melanoma, renal cancer or both cancers and has interesting biological properties. The study of anogenital melanoma has shown that these melanomas could be associated with cutaneous melanoma in the same patient and it has also shown a high frequency of family history of melanoma associating mucosal and CM suggesting a shared genetic predisposition. Consequently dermatological screening or monitoring must include examination of both skin and mucosa in families with multiple cases of CM; and in case of a mucosal melanoma, a dermatological examination should be offered to relatives. The genetic mechanism has to be identified
Rouprêt, Morgan. "Altérations moléculaires des carcinomes urothéliaux de la voix excrétrice urinaire supérieure : instabilité génétique-corrélation phénotype/ génotype-facteurs pronostiques-applications cliniques". Paris 7, 2007. http://www.theses.fr/2007PA077004.
Upper urinary tract transitional cell carcinomas (UUT-TCCs) are very rare tumours which account for only 5% of all urothelial carcinomas. Microsatellite instability (MSI) is an indication of the clonal expansion of neoplasms and was first identified in the tumours of patients with hereditary non-polyposis colorectal carcinoma. MIS is a common genetic event in UUT-TCCs whereas it appears in less than 3% in cases of bladder cancer. In UUT-TCCs with high MSI levels, hereditary predisposition should be investigated systematically if the patient has a history of a HNPCC associated cancer or is under 60. In these cases, genetic counselling needs to be provided to the patient's family. Five-year survival for patients with invasive UUT-TCCs (&T2) is less than 50%. High MSI level signifïcantly indicates better prognosis, especially in patients younger than 70 years with invasive tumours. In another study, we have analysed the expression of five proteins of interest: E-Cadherin, Ki67, p53, p27 and survivin using tissu microarray technology. Only E-Cadherin was a useful independant prognostic factor in multivariate analysis. To detect urothelial recurrence after primary superficial bladder cancer, we used microsatellite markers and detection of aberrant hypermethylation at CpG islands in tumours cells exfoliated in urine. A marker panel of IFNA, MBP, ACTBP2, D9S162 (instability) and of RASSFla, WIF1 (methylation) could replace cystoscopy and urinary cytology in a near future. Conservative surgery can now be recommended as an alternative to nephroureterectomy for management of low grade UUT-TCCs. Further advance in identification of distinct mechanisms of carcinogenesis between UUT-TCCs and bladder carcinomas lead progressively to new methods of treatment adapted on the individual molecular profile of each single tumour
Nesslany, Fabrice. "Etude de la spécificité du test des comètes in vivo : application à l'étude de produits à tropisme rénal". Lille 2, 2007. http://www.theses.fr/2007LIL2S023.
Guérin, Célia. "Caractérisation de nouvelles mutations activatrices dépendantes de l'HGF dans le lobe N-terminal du domaine kinase du récepteur MET dans le cancer du rein héréditaire". Electronic Thesis or Diss., Université de Lille (2022-....), 2023. https://pepite-depot.univ-lille.fr/ToutIDP/EDBSL/2023/2023ULILS074.pdf.
Targeted therapies are currently revolutionizing the management of cancer patients, provided they present a targetable molecular alteration responsible for tumor progression. Receptor tyrosine kinases (RTKs) with activating mutations are major targets of targeted therapies, with EGFR as a representative example, whose mutations lead to its constitutive activation, making it independent of stimulation by its ligand.The MET receptor, another RTK in this family, has activating mutations in kidney and lung cancer. Indeed, type I papillary renal cell carcinoma (HPRC), an uncommon hereditary cancer, is unique in that over 80% of cases have MET activating mutations. In contrast, in non-small cell lung cancer (NSCLC), MET mutations lead to skipping of exon 14 encoding the juxtamembrane domain (MET ex14 mutations). This exon skipping leads to the loss of the juxtamembrane domain, a regulatory domain involved in the negative regulation of the receptor. In an original way from other RTK mutations, these mutations always require stimulation by HGF, the ligand of MET, making HGF production a parameter to be considered in the stratification of patients eligible for targeted therapies.Tyrosine kinase inhibitors (TKIs) directed against MET have very recently been approved for clinical use, offering real hope for patients with these mutations.Thanks to the development of high-throughput sequencing for diagnosis and the emergence of new resistance mutations following treatment with targeted therapies, the spectrum of mutations affecting TKIs is expanding considerably. The current challenge is no longer the detection of these mutations, but their functional interpretation, which can demonstrate their activating character or their targeting by TKIs.In this context, my thesis objective was to exploit sequencing data from patients suffering from HPRC or NSCLC to identify new MET activating mutations and characterize their activation mechanisms in order to determine their eligibility for potential treatment by TKIs.Thanks to a collaboration with the Institute Gustave Roussy, which centralizes sequencing data from HPRC patients, we have identified 8 previously undescribed mutations in a cohort of 158 patients, affecting the extracellular domain (V37A and R426P), the juxtamembrane domain (S1018P and G1086E) and the N-terminal lobe of MET kinase (H1086L, I1102T, C1125G and L1130S). In parallel, thanks to our collaboration with the Lille University Hospital, which centralizes data on 2808 NSCLC patients, we have identified 2 undescribed kinase domain mutations.First, we demonstrated in a fibroblast transformation model that the four N-terminal lobe mutations identified in HPRC are potential MET-activating mutations. Interestingly, although localized to the kinase, these mutations retain a dependence on HGF to induce cell transformation. Moreover, all four mutations are sensitive to TKIs directed against MET.In a second step, to better characterize these new activating mutations, we established T47D epithelial cell lines expressing two of the new activating mutations (H1086L and I1102T), which we compared with wild-type MET and MET ex14, known to retain its dependence on HGF. Our results confirm that both mutations require activation by HGF for activation of downstream signaling pathways and induction of responses such as cell motility. Transcriptomic analysis reveals significant similarities between the transcriptional programs of the MET I1102T, H1086L and MET exon14 mutations, highlighting their involvement in extracellular matrix remodeling and invasion. Xenografts of cells expressing these new mutations in mouse models demonstrate their ability to promote tumor growth [...]
Hebert, Lucie. "Etude du rôle de BAP1 dans la prédisposition aux cancers et dans la tumorigenèse". Paris 7, 2014. http://www.theses.fr/2014PA077142.
BAP1 is a tumor suppressor gene which germline mutations predispose to a cancer predisposition syndrome named "BAP1 syndrome". The BAPI-related cancers are rare and aggressive, such as uveal melanoma and malignant mesothelioma. The first axis of my work was the study of a family harboring numerous kidney and breast cancers. We identified a germline BAP1 mutation carried by aIl individuals affected by kidney cancers ii this family, and a national study showed that the risk of developing kidney cancers is significantly higher for BAP1 mutation carriers. Those results demonstrate that BAP1 germline mutations predispose to kidney cancer, and that this tumor is part of the spectrum of BAPI-related cancers syndrome. However, the role of BAP1 in breast cancer predisposition remains uncertain. The identification of several breast cancers inactivated for BAP1 showed that this event is not specific to the family we studied, but the mechanisms of BAP1 inactivation remain to be understood. The second axis of my work consisted in the analysis of proteomic profiles of two isogenic cell lined inactivated or not for BAP1. This work showed that BAP1 re-expression in this cell line model has an effect on oxidative stress response, which in turn influences the dynamic of actin cytoskeleton, cell migration and invasiveness. We propose that BAP1 poly-deubiquitinase activity plays a role in the stability of a wide range of nuclear proteins that is turn regulates the stability of cytoplasmic proteins
Lenglet, Marion. "Rôle de la nouvelle isoforme d’épissage du gène von Hippel-Lindau dans la survenue d’érythrocytoses et de cancers du rein héréditaires". Thesis, Paris Sciences et Lettres (ComUE), 2019. http://www.theses.fr/2019PSLEP035.
The von Hippel-Lindau protein (VHL), encoded by the VHL gene that contains three exons, is a key factor of the hypoxia pathway. The main player of this pathway is the hypoxia inducible factor (HIF). In presence of oxygen, HIF is recognized by VHL, then ubiquitinylated and degradated by the proteasome. In absence of oxygen, HIF is stabilized and induces the expression of hundreds of genes involved in angiogenesis (VEGF), proliferation (TGF), metabolism (GLUT1) and erythropoiesis (EPO). When VHL is mutated, HIF is not degraded and induces the overexpression of these genes which can led to the formation of tumors via the hypervascularisation and the hyperproliferation of the cells or to an excessive erythropoiesis. Two pathologies are associated with mutations in VHL. The erythrocytosis is characterized by an elevated level of red blood cells and EPO serum level associated with homozygous or compound heterozygous mutations of VHL. The VHL disease is characterized by the development of hypervascularized tumors (hemangioblastomas of the central nervous system or of the retina, pheochromocytomas, paragangliomas or renal cancers) associated with heterozygous mutations of VHL and a loss of heterozygosity in tumors. It has been described that VHL mutations followed a continuum model of tumor suppression: the more severe is the loss of pVHL function the more severe is the developed pathology. However, some patients presented with a clinical aspect typical of VHL mutations but without any identified mutation (VHL disease) or with only heterozygous mutation (erythrocytosis). The molecular mechanisms at the origin of these phenotypes are not yet understood, the aim of my thesis was to study complex mutations of VHL, namely mutations that impact VHL splicing. A comprehensive study has been performed on twelve families: segregation study, phylogenetic analysis, minigene experiments and sequencing of RNA from tumors or lymphoblastoid cell lines of patients, measurement of the expression of mRNA and proteins, functional study of the new VHL isoforms. The splicing being specific to cell types, I also participated to the development of an EPO producing cellular model established from induced pluripotent stem cells (iPS) derived from patients. The beginning of my project was focused on the study of two synonymous mutations located in the second exon of the VHL gene, one associated with a VHL disease and one associated with an erythrocytosis. I demonstrated that these mutations induce the VHL exon 2 skipping associated with a decreased expression of the normal transcript (containing exon 1, 2 and 3 spliced) in favor of transcripts that contain exon 1 spliced with exon 3, a non-functional isoform. I showed that exonic mutations in VHL can induce splicing defects and led to a loss of function of VHL at the origin the observed phenotypes. In-depth study of VHL transcripts allowed the discovery of two cryptic exons located in the introns 1 and 2 of VHL. These two exons named E1’ and E2’ have been sequenced and found mutated in unsolved cases of VHL disease or erythrocytosis. I showed that mutations in E1’ led to an excessive retention of this exon associated with a decreased expression of VHL protein. In addition, comparative studies of synonymous and E1’- VHL mutations associated with von Hippel-Lindau or erythrocytosis confirmed the continuum model of tumor suppression. Analyses of the mutations in the E2’ exon have not yet permitted to identify the processes involved in the developed diseases. During my thesis, I have therefore demonstrated that exon-skipping and cryptic-exon-retention are new VHL alterations and I identified a novel complex splicing regulation of the VHL gene. This study allowed the identification of the patients’ disease origin who had so far no genetic diagnosis. These results provided access of patients to a better medical monitoring and paved the way of further therapeutic prospects