Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

@article{ChenevixTrench2006GeneticAH,
  title={Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.},
  author={Georgia Chenevix-Trench and Sue Healey and Sunil Lakhani and Paul Waring and Margaret C. Cummings and Ross Brinkworth and Amie M. Deffenbaugh and Lynn Anne Burbidge and Dmitry Pruss and Thad Judkins and Tom Scholl and Anna Bekessy and A. B. Marsh and Paul K. Lovelock and Ming-hung Wong and Andrea A. Tesoriero and H{\'e}l{\`e}ne Renard and Melissa C. Southey and John L. Hopper and Koulis Yannoukakos and Melissa Brown and Douglas F. Easton and Sean V. Tavtigian and David E. Goldgar and Amanda B Spurdle},
  journal={Cancer research},
  year={2006},
  volume={66 4},
  pages={2019-27}
}
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the unclassified variant with affected status, and Grantham analysis of the fit between the missense… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 97 extracted citations

BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology • 2008
View 4 Excerpts
Highly Influenced

Exposure to beta-cypermethrin impairs the reproductive function of female mice.

Regulatory toxicology and pharmacology : RTP • 2018
View 11 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 56 references

Similar Papers

Loading similar papers…