Service de génétique oncologique, Institut Curie-hôpital, 26, rue d’Ulm, 75248 Paris cedex 05, France, Inserm U830, Institut Curie, centre de recherches, 26, rue d’Ulm, 75248 Paris cedex 05, France, Université Paris-Descartes, 12, rue de l’École-de-Médecine, 75006 Paris, France, École des mines de Paris, ParisTech, 35, rue Saint-Honoré, 77305 Fontainebleau cedex, France, Service de biostatistiques, Institut Curie-hôpital, 26, rue d’Ulm, 75248 Paris cedex 05, France, Inserm U900, Institut Curie, centre de recherches, 26, rue d’Ulm, 75248 Paris cedex 05, France
- Key words: risk estimation, breast cancer, predictive models, BRCA1, BRCA2
- DOI : 10.1684/bdc.2009.0928
- Page(s) : 979-88
- Published in: 2009
Several risk estimation models for breast or ovarian cancers have been developed these last decades. All these models take into account the family history, with different levels of sophistication. Gail model was developed in 1989 taking into account the family history (0, 1 or ≥ 2 affected relatives) and several environmental factors. In 1990, Claus model was the first to integrate explicit assumptions about genetic effects, assuming a single gene dominantly inherited occurring with a low frequency in the population. BRCAPRO model, posterior to the identification of BRCA1 and BRCA2, assumes a restricted transmission with only these two dominantly inherited genes. BOADICEA model adds the effect of a polygenic component to the effect of BRCA1 and BRCA2 to explain the residual clustering of breast cancer. At last, IBIS model assumes a third dominantly inherited gene to explain this residual clustering. Moreover, this model incorporates environmental factors. We applied the Claus, BRCAPRO, BOADICEA and IBIS models to four clinical situations, corresponding to more or less heavy family histories, in order to study the consistency of the risk estimates. The three more recent models (BRCAPRO, BOADICEA and IBIS) gave the closer estimations. These estimates could be useful in clinical practice in front of complex analysis of breast and/or ovarian cancers family history.