Classification of BRCA1 missense variants of unknown clinical significance.

  title={Classification of BRCA1 missense variants of unknown clinical significance.},
  author={Catherine M. Phelan and Vesna Dapic and Brad Tice and Reyna Favis and Elaine Kwan and Francis Barany and Siranoush Manoukian and Paola Radice and Rob B van der Luijt and Bernadette P M van Nesselrooij and Georgia Chenevix-Trench and Kconfab and Trinidad Caldes and Miguel de la Hoya and Susan Lindquist and Sean V. Tavtigian and D Goldgar and Aaron Borg and S. A. Narod and Alvaro N. A. Monteiro},
  journal={Journal of medical genetics},
  volume={42 2},
BACKGROUND BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast-ovarian cancer families. Several missense variants have been identified throughout the gene but because of lack of information about their impact on the function of BRCA1, predictive testing is not always informative. Classification of missense variants into deleterious/high risk or neutral/low clinical significance is essential to identify individuals… CONTINUE READING

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