Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.

@article{Neuhausen1998HaplotypeAP,
  title={Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.},
  author={Susan L. Neuhausen and Andrew K. Godwin and Ruth Gershoni-baruch and Elizabeth L. Schubert and Judy E. Garber and D. Stoppa-Lyonnet and Edith Ol{\'a}h and B{\'e}la Cs{\'o}kay and Olga Serova and Fiona Lalloo and Ana Osorio and Michael R. Stratton and Kenneth Offit and Jeff Boyd and Maria Adelaide Caligo and Rodney J. Scott and Amy R Schofield and Erik Teugels and Maria Schwab and Lisa Anne Cannon-Albright and Tim Bishop and Douglas Easton and Javier Ben{\'i}tez and Mary-Claire King and Bruce A. J. Ponder and B L Weber and Peter Devilee and {\AA}ke Borg and Steven A. Narod and David E. Goldgar},
  journal={American journal of human genetics},
  year={1998},
  volume={62 6},
  pages={
          1381-8
        }
}
Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of the individual mutations are estimated to have arisen 400-2,000 years ago. In… 

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