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Med Sci (Paris). 2019 Apr;35(4):332-345. doi: 10.1051/medsci/2019072. Epub 2019 Apr 30.

[Inherited predisposition to breast cancer (2) : risks and surveillance].

[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, Paris-Université, France - Hôpital Saint-Louis, 1, avenue Claude Vellefaux, 75475 Paris Cedex 10, France.


Recent progres in massive deep sequencing have paved the way to routine exploration of the current panorama of inherited predisposition to breast cancer, through multigene panel analysis. Cancer risks and spectrum vary according to the gene at stake. Surveillance modalities are thus adapted to the risk-level : (1) very high, which follow specific recommendations from french NCI (INCa) ; (2) high and (3) moderate ; in the latter case, patients'follow-up compares to women of the general population. In the absence of causal mutation, other risk factors may be considered and professional scores be calculated. Of note and according to french HAS recommendations issued in 2014, the family history prevails ; on this basis, INCa has set up a national coverage of follow-up networks which specifically address high risk individuals, with or without mutation. Finally, an innovative path of specific targeted-therapies is currently opening for mutation carriers.


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