Hereditary breast and ovarian cancer testing in the genomic era
A partir de données portant sur 11 416 patientes atteintes d'un cancer du sein et/ou de l'ovaire et sur 3 988 témoins non malades ayant pratiqué des tests génétiques, cette étude de séquençage sur l'exome entier confirme le rôle des gènes de prédisposition BRCA dans l'étiologie des cancers du sein et de l'ovaire et identifie 625 gènes de prédisposition à la maladie
Advances in next-generation sequencing and the decreasing cost of technology have widened access to cancer genomic testing. This development has enabled a shift from iterative, single-gene testing based on the presenting cancer phenotype to more broad-based genomic tests, including targeted cancer susceptibility gene panels and exome sequencing with directed in silico analysis. The potential benefits of this approach include an increase in diagnostic yield and identification of actionable risk. Nevertheless, it remains difficult to determine the cancer risk associated with many breast or ovarian cancer susceptibility genes. This is especially true for those genes that confer a moderate risk with confidence intervals that may be wide, and factors other than a single genotype may influence risk estimates. Developing optimal clinical management guidelines is a challenge in this context. Furthermore, these challenges have resulted in some variation in the genes that are included on hereditary breast or ovarian cancer susceptibility gene panels.