Toward Classification of BRCA1 Missense Variants Using a Biophysical Approach

@inproceedings{Rowling2010TowardCO,
  title={Toward Classification of BRCA1 Missense Variants Using a Biophysical Approach},
  author={Pamela J. E. Rowling and Rebecca S. Cook and Laura S. Itzhaki},
  booktitle={The Journal of biological chemistry},
  year={2010}
}
Carriers of germ line mutations in breast cancer susceptibility gene BRCA1 have an increased risk of developing breast and ovarian cancers; missense mutations have, however, been difficult to assess for disease association. Here we have used a biophysical approach to classify these variants. We established an assay for measuring the thermodynamic stability of the BRCA1 BRCT domains and investigated the effects of 36 missense mutations. The mutations show a range of effects. Some do not change… CONTINUE READING

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