Spectre des variants génétiques dans le syndrome héréditaire des cancers du sein et de l’ovaire chez des patients tunisiens : Etude clinique et revue de la littérature
DOI :
https://doi.org/10.62438/tunismed.v104i06.6577Mots-clés :
BRCA1, BRCA2, héréditaire, variant, germinal, panelRésumé
Introduction: Le syndrome héréditaire du cancer du sein et de l’ovaire (HBOC) est un trait autosomique dominant. Elle est principalement associée à des variants germinaux des gènes BRCA1 et BRCA2, qui augmentent significativement le risque à vie de développer des cancers du sein et de
l’ovaire.
Objectif: Dans cette étude, nous avons visé à évaluer les caractéristiques cliniques et génétiques des patients suspectés de porter le syndrome HBOC et à déterminer la prévalence et le spectre des variants pathogènes de la lignée germinale.
Méthodes: Nous avons mené une étude rétrospective sur 147 patientes diagnostiquées avec un cancer du sein et/ou de l’ovaire, avec ou sans antécédents familiaux de cancer, qui ont subi des tests génétiques entre 2014 et 2024. Au total, 91 patients ont subi un séquençage Sanger pour
des variants BRCA1/2 récurrents dans la population tunisienne et 56 patients ont subi un test multigénique basé sur NGS.
Résultats: Un variant hétérozygote germinal a été identifié chez 33 patientes (22,4 %), dont 26 atteintes d’un cancer du sein isolé, 4 uniquement d’un cancer de l’ovaire, 2 d’un cancer du sein et de l’ovaire, et une avec des cancers du sein et du pancréas. Parmi les porteurs de ces patients, 90 %
présentaient des antécédents familiaux positifs de cancer. Des variantes ont été trouvées dans BRCA1 (n=21), BRCA2 (n=8), ATM (n=3) et RAD51D (n=1).
Conclusion: L’identification de variantes constitutionnelles dans les gènes héréditaires du cancer du sein et de l’ovaire offre des bénéfices diagnostiques, ...( résumé tronqué à 250 mots).
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