Abstract
RAP80 and CCDC98 have arisen as new candidate breast cancer susceptibility genes, since they encode for two very recently identified BRCA1 interacting proteins. In this study we have performed the first mutational analysis of both genes in 168 multiple-case breast/ovarian cancer families, negative for mutations in BRCA1 or BRCA2. We have not found truncating mutations in any of the genes and only two missense variants, p.Tyr564His in RAP80, and p.Met299Ile in CCDC98 were found that could be suspected to have a pathogenic effect, although further analyses suggested that they were probably non deleterious. Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes.
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Acknowledgements
We thank V. Fernández, R. Alonso and F. Fernández (Sapnish National Cancer Centre) for excellent technical assistance and L. Robles (Doce de Octubre Hospital, Madrid), P. Zamora (La Paz Hospital, Madrid) and C. San Román (Ramón y Cajal Hospital, Madrid) for their contributions in the ascertainment of part of the families included in the study. This study was partially supported by the Fancogene project (Fundación Genoma España) and the Spanish Health Ministry FIS 04/2240, and FIS PI 070378.
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Osorio, A., Barroso, A., García, M.J. et al. Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility. Breast Cancer Res Treat 113, 371–376 (2009). https://doi.org/10.1007/s10549-008-9933-4
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DOI: https://doi.org/10.1007/s10549-008-9933-4