Evaluation of the interacting genes and in familial breast cancer susceptibility

Ana Osorio (1, 2) , Alicia Barroso (1) , Maria J. García (1) , Beatriz Martínez-Delgado (1) , Miguel Urioste (1) , Javier Benítez (1, 2)

1 Group of Human Genetics, Human Cancer Genetics Programme
2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)

and 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 or . We have not found truncating mutations in any of the genes and only two missense variants, p.Tyr564His in , and p.Met299Ile in 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 and do not play an important role as high penetrance breast cancer susceptibility genes.

Mots clés: Hereditary breast cancer; RAP80; CCDC98; BRCA1

Ana Osorio, Alicia Barroso, Maria J. García, Beatriz Martínez-Delgado, Miguel Urioste, et al.. Evaluation of the interacting genes and in familial breast cancer susceptibility. Breast Cancer Research and Treatment, 2008, 113 (2), pp.371-376. ⟨10.1007/s10549-008-9933-4⟩. ⟨hal-00478314⟩