Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

@article{Gad2002SignificantCO,
  title={Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families},
  author={Sophie Gad and Virginie Caux‐Moncoutier and Sabine Pag{\`e}s-Berhouet and Marion Gauthier‐Villars and Isabelle Coupier and Pascal Pujol and Marc Fr{\'e}nay and Brigitte Gilbert and Christine M. Maugard and Yves-Jean Bignon and Annie Chevrier and Annick Rossi and J P Fricker and Tan Dat Nguyen and Liliane Demange and Alain Aurias and Aaron Bensimon and Dominique Stoppa-Lyonnet},
  journal={Oncogene},
  year={2002},
  volume={21},
  pages={6841-6847}
}
Genetic linkage data have shown that alterations of the BRCA1 gene are responsible for the majority of hereditary breast-ovarian cancers. However, BRCA1 germline mutations are found much less frequently than expected, especially as standard PCR-based mutation detection approaches focus on point and small gene alterations. In order to estimate the contribution of large gene rearrangements to the BRCA1 mutation spectrum, we have extensively analysed a series of 120 French breast-ovarian cancer… 

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