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La génétique constitutionnelle peut-elle impacter la prise en charge d’une femme atteinte de cancer du sein aujourd’hui ?

Can genetic testing for germline mutations impact cancer care of women with recently diagnosed breast cancer?

  • Synthèse / Review Article
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Oncologie

Abstract

The concept of personalized medicine has rapidly become a major part of breast cancer care. It relies on complex biological evaluations and predictions of both the prognostic and the specific treatment sensitivity of a single tumor and a single individual. Germline genetics can currently provide information that appears complementary to that provided by somatic analyses, regarding local and general prognosis of the current cancer and also subsequent cancer risk. In the next few years, germline genetic data should also have a major role to play in the evaluation of potential sensitivity to medical treatments (treatments targeting DNA repair such as the recently emerging PARP inhibitors), and therefore guide major treatment choices. This paper summarizes current existing data regarding the potential impact of germline genetics in the personalized care of breast cancer patients in 2010 and the evolutions expected in the coming years.

Résumé

Le concept de médecine personnalisée s’est fortement développé dans la prise en charge des cancers du sein ces dernières années. Il repose sur des tests biologiques complexes, sur la tumeur évaluant le pronostic et la sensibilité de la maladie aux traitements potentiels. La génétique constitutionnelle est aujourd’hui capable d’apporter des informations essentielles et complémentaires aux données somatiques, en matière de pronostic local et général, mais surtout en termes de risque de nouveau cancer. Dans les années qui viennent, elle sera essentielle pour l’évaluation de la sensibilité potentielle spécifique aux thérapeutiques, en particulier avec l’arrivée de thérapeutiques ciblées spécialisées (les inhibiteurs de poly[ADP-ribose] polymérase [PARP] étant les chefs de file en cas d’anomalies constitutionnelles de réparation de l’ADN par exemple). Dans certains cas très rares, la sensibilité thérapeutique peut être excessive, comme en cas de présence d’une anomalie constitutionnelle de type p53 qui peut contre-indiquer les radiations ionisantes. Cette revue fait le bilan de nos connaissances en matière d’impact de la génétique constitutionnelle dans la prise en charge personnalisée des cancers du sein en 2010 et les modifications attendues dans les années à venir.

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Authors and Affiliations

  1. Département de médecine, comité de pathologie mammaire et comité d’oncogénétique, institut Gustave-Roussy, 39, rue Camille-Desmoulins, F-94800, Villejuif, France

    S. Delaloge, A. Varga & O. Caron

  2. Département de chirurgie, institut Gustave-Roussy, 39, rue Camille-Desmoulins, F-94800, Villejuif, France

    F. Rimareix & C. Uzan

  3. Département d’imagerie, institut Gustave-Roussy, 39, rue Camille-Desmoulins, F-94800, Villejuif, France

    C. Balleyguier

  4. Département de biopathologie, institut Gustave-Roussy, 39, rue Camille-Desmoulins, F-94800, Villejuif, France

    A. Remenieras

  5. Département de radiothérapie, institut Gustave-Roussy, 39, rue Camille-Desmoulins, F-94800, Villejuif, France

    C. Bourgier

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  1. S. Delaloge
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  2. F. Rimareix
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  3. C. Balleyguier
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  4. A. Remenieras
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  5. A. Varga
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  6. C. Uzan
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  7. C. Bourgier
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  8. O. Caron
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Correspondence to S. Delaloge.

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Delaloge, S., Rimareix, F., Balleyguier, C. et al. La génétique constitutionnelle peut-elle impacter la prise en charge d’une femme atteinte de cancer du sein aujourd’hui ?. Oncologie 12, 248–254 (2010). https://doi.org/10.1007/s10269-010-1877-8

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  • DOI: https://doi.org/10.1007/s10269-010-1877-8

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