Letteratura scientifica selezionata sul tema "Tumeurs du rein – génétique"
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Articoli di riviste sul tema "Tumeurs du rein – 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.
Peycelon, M., R. Renard-Penna e M. Rouprêt. "Tumeurs du rein". EMC - Traité de médecine AKOS 6, n. 3 (gennaio 2011): 1–10. http://dx.doi.org/10.1016/s1634-6939(11)53007-8.
Roy, C., J. Jeantroux, S. Tétékpor e V. Lindner. "Tumeurs du rein". Journal de Radiologie 87, n. 9 (settembre 2006): 1025–54. http://dx.doi.org/10.1016/s0221-0363(06)74126-9.
Ploussard, G. "Tumeurs du rein". Progrès en Urologie 30, n. 2 (marzo 2020): 3S5–3S7. http://dx.doi.org/10.1016/s1166-7087(20)30195-0.
Eiss, D. "Tumeurs solides du rein". Journal de Radiologie 90, n. 10 (ottobre 2009): 1313. http://dx.doi.org/10.1016/s0221-0363(09)75213-8.
Calender, A., S. Dupasquier, M. Cordier e C. X. Zhang. "Génétique des tumeurs endocrines". Annales de Pathologie 25, n. 6 (dicembre 2005): 463–86. http://dx.doi.org/10.1016/s0242-6498(05)86161-9.
MALGRAS, B., X. DURAND, A. SALIN, M. DUSAUD, B. MOLINARD e A. HOULGATTE. "Prise en charge des tumeurs du rein de petite taille: étude à propos de 91 néphrectomies partielles". Médecine et Armées Vol. 41 No. 3, Volume 41, Numéro 3 (1 giugno 2013): 271–76. http://dx.doi.org/10.17184/eac.6684.
Perlman, E., e L. Boccon-Gibod. "Tumeurs du rein de l’enfant". Annales de Pathologie 24, n. 6 (dicembre 2004): 516–35. http://dx.doi.org/10.1016/s0242-6498(04)94016-3.
Hélénon, O., D. Eiss, J. Hayoun, A. Vieillefond, S. Merran e J. M. Correas. "Tumeurs du rein de l'adulte". EMC - Radiologie et imagerie médicale - Génito-urinaire - Gynéco-obstétricale - Mammaire 3, n. 1 (gennaio 2008): 1–29. http://dx.doi.org/10.1016/s1879-8543(08)70655-4.
Tesi sul tema "Tumeurs du rein – génétique":
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
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.
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
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 [...]
Salzmann, Franck. "L'oncocytome rénal : à propos de quatorze observations". Montpellier 1, 1993. http://www.theses.fr/1993MON11088.
Molle, Rachel Kessler Michèle. "Risque de développer un cancer après une transplantation rénale étude rétrospective chez 504 patients transplantés au CHU de Nancy /". [S.l] : [s.n], 2004. http://www.scd.uhp-nancy.fr/docnum/SCDMED_T_2004_MOLLE_RACHEL.pdf.
Jaunait, Eric. "Adénomatose rénale : à propos de deux cas". Caen, 1990. http://www.theses.fr/1990CAEN3104.
Cales, Valérie. "Oncocytomes rénaux et tumeurs rénales à cellules éosinophiles". Bordeaux 2, 1995. http://www.theses.fr/1995BOR23025.
Ibrahim, El Chérif. "Regulation de l'expression de gene hla-g lors de la reponse au stress et analyse de l'activation selective de ce gene dans les melanomes et les carcinomes renaux". Paris 5, 2001. http://www.theses.fr/2001PA05N085.
Bensalah, Charles Karim. "La spectroscopie optique : une nouvelle approche pour l'étude des tumeurs du rein". Rennes 1, 2010. http://www.theses.fr/2010REN1B135.
The objective was to evaluate the ability of optical spectroscopy to characterize renal tumors. Reflectance optical spectroscopy measurements (ROSM) were acquired in 22 patients who underwent a nephrectomy for a renal tumor. Raman Spectroscopy measurements were made in another population of 44 patients with a suspicion of renal cancer. ROSM were analyzed in the visible and near infrared region. Raman spectra were processed with a vector support machine to create a classification tool. ROS could differenciate normal and tumoral renal tissue as well as malignant and benign tumors. Raman algorithm could classify spectra with a >80% precision as normal/tumoral, high and low grade and according to hystologic subtype. RS and ROS are non-invasive techniques that can recognize with high accuracy normal and tumoral renal tissue, benign and malignant renal tumors and characterize malignant renal tumors
Libri sul tema "Tumeurs du rein – génétique":
Montie, James E. Clinical management of renal cell cancer. A cura di Pontes J. Edson e Bukowski Ronald M. Chicago: Year Book Medical Publishers, 1990.
K, Cowell John, a cura di. Molecular genetics of cancer. Oxford: Bios, 1995.
Mostofi, Fatholla Keshvar. Histological typing of kidney tumours. 2a ed. Berlin: Springer, 1997.
1951-, Cavennee Webster, Hastie Nicholas, Stanbridge Eric J e Banbury Center, a cura di. Recessive oncogenes and tumor suppression. Cold Spring Harbor, N.Y: Cold Spring Harbor Laboratory Press, 1989.
P, Tonini G., Sansone Raffaele 1957-1991 e Thiele Carol J, a cura di. Molecular genetics of pediatric solid tumors: Basic concepts and recent advances. Chur: Harwood Academic Publishers, 1992.
Greaves, M. F. Cancer: The evolutionary legacy. Oxford: Oxford University Press, 2000.
Varmus, Harold. Genes and the biology of cancer. New York: Scientific American Library, 1993.
Coppes, Max. Wilms tumor: Clinical and molecular characterization. Austin, Tex: R.G. Landes Co., 1995.
International, Conference on Carcinogenesis and Risk Assessment (8th 1994 Austin Tex ). Genetics and cancer susceptibility: Implications for risk assessment : proceedings of the Eighth International Conference on Carcinogenesis and Risk Assessment, held in Austin, Texas, November 30-December 3, 1994. New York: Wiley-Liss, 1996.
Sioud, Mouldy. RNA interference: Challenges and therapeutic opportunities. New York: Humana Press, 2015.
Capitoli di libri sul tema "Tumeurs du rein – génétique":
Négrier, Sylvie. "Rein". In Tumeurs malignes rares, 549–52. Paris: Springer Paris, 2010. http://dx.doi.org/10.1007/978-2-287-72070-3_87.
Lasset, Christine, Sophie Giraud e Valérie Bonadona. "Tumeurs rares et prédisposition génétique". In Tumeurs malignes rares, 15–23. Paris: Springer Paris, 2010. http://dx.doi.org/10.1007/978-2-287-72070-3_3.
Rioux-Leclercq, Nathalie. "Introduction – Épidémiologie des tumeurs du rein". In Pathologie Tumorale Rénale, 1–3. Elsevier, 2014. http://dx.doi.org/10.1016/b978-2-294-73736-7.00019-7.
L’Herminé-Coulomb, Aurore. "Tumeurs du rein de l’enfant et de l’adolescent". In Pathologie Tumorale Rénale, 199–221. Elsevier, 2014. http://dx.doi.org/10.1016/b978-2-294-73736-7.00014-8.