Cancer du sein triple négatif : histoire naturelle et étude des facteurs génétiques impliqués

Abstract : Triple negative breast cancer (TNBC) is defined by no expression of hormonal receptors and no subexpression/amplification of oncoprotein HER2, and accounts for 12 to 17% of all breast cancers. The purpose of the prospective cohort called SA03, is to characterize molecularly TNBC and correlate theses data with natural history to identify prognostic or therapeutic markers. The main purpose of this thesis is to evaluate the percentage of constitutional mutations in genes BRCA1 and BRCA2 in TNBC and define clinical standards to retain a molecular analysis. In the context of SA03 cohort, 285 patients have been retained and tested for BRCA1 and BRCA2 genes by Sanger sequencing and MLPA. We have identified constitutional mutations in BRCA1/2 genes in 40/285 patients (14.1%) for all TNBC including 28 in BRCA1 (9.8%) and 12 in BRCA2 (4.2%). SBR grade at diagnosis seems to be not a sufficient argument to do a molecular analysis in TNBC. Within a context of positive familial history, all TBNC could have a molecular analysis, if we retain the threshold of 10% detection probability to identify mutation, as ASCO recommend it. All TNBC could be molecular analysed if familial history is not considered. Our work is a first step to demonstrate the increasing contribution of molecular data to drive the management of patients with TNBC. The continuation of constitutional and somatic molecular analysis in a longer period would be contribute to establish new medical guidelines in the domain or personalized medicine.
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Submitted on : Monday, February 18, 2019 - 5:43:52 PM
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Pierre Naïbo. Cancer du sein triple négatif : histoire naturelle et étude des facteurs génétiques impliqués. Sciences du Vivant [q-bio]. 2018. ⟨dumas-02023905⟩



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