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Master Thesis

Le cancer du rein héréditaire, synthèse d’une consultation d’oncogénétique mise en place au CHU de Bordeaux

Abstract : Hereditary kidney carcinoma syndromes account for 3% of all cases of kidney carcinomas. Stakes of this diagnosis are for patient but also its family. The research of genetic variants allows to objectify their presence. This analysis is provided by Bordeaux public hospital with specialized oncogenetics consultations. Single gene Sanger sequencing have been replaced since 2017 by panels of genes with next generation sequencing. This study aims to assess guidelines to refer patients with renal carcinomas to oncogenetics consultations. From 2012 to 2019, 142 patients with renal carcinomas were tested in Bordeaux to search hereditary predispositions. 19 (13%) had a positive test result, their personal and familial medical datas and histories were compared to those of the 123 other patients. We also weighted the performance of next generation sequencing to Sanger in this indication. Positive family history of kidney cancer (p<0.01), personal history suggestive for a syndrome (p<0.001) and family history of cancers of the same spectrum before 50 (p=0.05) were significantly associated with a higher probability of positive test. In our results, next generation sequencing has better performance for clear cell carcinomas (p=0.03). Patients are referred according to age at onset, multifocal nature of tumors or first-degree history of kidney cancers, but personal and familial should also be taken into account before referring such patients.
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https://dumas.ccsd.cnrs.fr/dumas-02973996
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Submitted on : Wednesday, October 21, 2020 - 2:46:18 PM
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Henri Margot. Le cancer du rein héréditaire, synthèse d’une consultation d’oncogénétique mise en place au CHU de Bordeaux. Sciences du Vivant [q-bio]. 2020. ⟨dumas-02973996⟩

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