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Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.

[Hereditary predisposition to breast cancer (1): genetics].

[Article in French]

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Unité d'Oncogénétique, Service d'oncologie médicale, pôle HI-3RO et faculté de Médecine, université Paris 7 Denis Diderot, USPC   - Hôpital Saint-Louis, 1, avenue Claude Vellefaux, 75475 Paris Cedex 10, France.


The main objective of oncogenetics is to characterize a subpopulation of patients at high risk of cancer development at an early age in order to provide specific recommendations for an optimized follow-up and care path. Oncogenetic counselling helps to assess individual risk from a family history. By a family approach of formal genetics, the key issue is to identify families with a strong aggregation of cancers, and, in particular, suggesting a specific syndrome of inherited predisposition to cancer. This approach can lead to the proposal of germline genetic testing in search of causal mutations. As up to know, the search for a constitutional mutation in the BRCA genes has led to the identification of a causal deleterious mutation in less than 10% of index-cases analyzed. It is therefore important to evaluate the impact of new genes in the current panorama of inherited predisposition to breast and ovarian cancer.


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