Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations.

@article{Agata2006PrevalenceOB,
  title={Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations.},
  author={Simona Agata and Alessandra Viel and Lara Della Puppa and Laura Cortesi and Giusi Fersini and M da G Callegaro and Maurizia Dalla Palma and Riccardo Dolcetti and Massimo Federico and Salvatore Venuta and Gianmaria Miolo and E. D'andrea and Marco Montagna},
  journal={Genes, chromosomes & cancer},
  year={2006},
  volume={45 9},
  pages={791-7}
}
The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement of this mutation type in genetic predisposition to breast and ovarian cancer. Population-specific studies are now needed to evaluate the prevalence of genomic rearrangements before deciding whether… CONTINUE READING

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