A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

@article{Miki1994ASC,
  title={A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.},
  author={Yoshio Miki and Jeffrey J. Swensen and Donna M Shattuck-Eidens and P. Andrew Futreal and Keith Harshman and Sean V. Tavtigian and Q. Liu and Charles Cochran and L. Michelle Bennett and Wei Ding},
  journal={Science},
  year={1994},
  volume={266 5182},
  pages={
          66-71
        }
}
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including… 
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The results indicate that families with a low number of cancer patients should be referred for BRCA1 genetic testing mainly when ovarian cancer is present, especially when these were characterized by breast cancers only.
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Three missense mutations in the BRCA1 gene from two Korean hereditary breast/ovarian cancer families are investigated using direct DNA sequencing and are not believed to be involved in the development of the disease, but may be associated with breast/OVarian cancers in another yet undefined way.
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