Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

@inproceedings{Ligtenberg1999CharacteristicsOS,
  title={Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2},
  author={Marjolijn J. L. Ligtenberg and Frans Hogervorst and Hilde Willems and Petronella J.W. Arts and G Vanden Brink and Sandra Hageman and Ermanno A J Bosgoed and E Van der Looij and Matti A. Rookus and Peter Devilee and E M A W Vos and Gea Wigbout and P. M. Struycken and Fred H. Menko and Emiel J. Th. Rutgers and Elisabeth H. Hoefsloot and E. C. Mariman and Han G. Brunner and Laura J. van't Veer},
  booktitle={British Journal of Cancer},
  year={1999}
}
SummaryFor families with a small number of cases of breast and/or ovarian cancer, limited data are available to predict the likelihood of genetic predisposition due to mutations in BRCA1 or BRCA2. In 104 families with three or more affected individuals (average 3.8) seeking counselling at family cancer clinics, mutation analysis was performed in the open reading frame of BRCA1 and BRCA2 by the protein truncation test and mutation-specific assays. In 31 of the 104 families tested, mutations were… CONTINUE READING

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Rapid detection of BRCA 1 mutations by the protein truncation test

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