A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

@article{Sanz2010AHP,
  title={A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.},
  author={David J. Sanz and Alberto Acedo and Mar Infante and M L Dur{\'a}n and Luc{\'i}a P{\'e}rez-Cabornero and Eva M Esteban-Carde{\~n}osa and E Diaz de la Lastra and Franco Pagani and Cristina Miner and Eladio A Velasco},
  journal={Clinical cancer research : an official journal of the American Association for Cancer Research},
  year={2010},
  volume={16 6},
  pages={1957-67}
}
PURPOSE Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process. We have investigated the effect of aberrant splicing of BRCA1/2 on hereditary breast/ovarian cancer (HBOC). EXPERIMENTAL DESIGN DNA variants were analyzed with splicing prediction programs to select putative splicing mutations. Splicing assays of 57 genetic variants were done by lymphocyte reverse… CONTINUE READING

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Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

  • MP Vreeswijk, JN Kraan, HM van der Klift
  • Hum Mutat 2009;30:107-14
  • 2009
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