Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

@article{Konstantopoulou2007GreekBA,
  title={Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients},
  author={Irene Konstantopoulou and Theodore Rampias and Angela Ladopoulou and George Koutsodontis and Sophia Armaou and Theodore Anagnostopoulos and George Nikolopoulos and Smaragda Kamakari and George Nounesis and Antonis Stylianakis and Charisios Karanikiotis and Evangelia Razis and Helen J. Gogas and Antonios Keramopoulos and Vassiliki Gaki and Christos J. Markopoulos and Dimosthenis Vasilios Skarlos and Nikos Pandis and Thalia A Bei and Iordanis Arzimanoglou and George Fountzilas and Drakoulis Yannoukakos},
  journal={Breast Cancer Research and Treatment},
  year={2007},
  volume={107},
  pages={431-441}
}
127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with previously reported mutation data reveals that in a total of 287 Greek breast/ovarian cancer… CONTINUE READING

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