Breast Cancer Research and Treatment

, Volume 113, Issue 2, pp 371–376

Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility

  • Ana Osorio
  • Alicia Barroso
  • Maria J. García
  • Beatriz Martínez-Delgado
  • Miguel Urioste
  • Javier Benítez
Epidemiology

DOI: 10.1007/s10549-008-9933-4

Cite this article as:
Osorio, A., Barroso, A., García, M.J. et al. Breast Cancer Res Treat (2009) 113: 371. doi:10.1007/s10549-008-9933-4

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.

Keywords

Hereditary breast cancerRAP80CCDC98BRCA1

Supplementary material

Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Ana Osorio
    • 1
    • 2
  • Alicia Barroso
    • 1
  • Maria J. García
    • 1
  • Beatriz Martínez-Delgado
    • 1
  • Miguel Urioste
    • 1
  • Javier Benítez
    • 1
    • 2
  1. 1.Group of Human Genetics, Human Cancer Genetics ProgrammeMadridSpain
  2. 2.Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)ISCIIIMadridSpain