Article
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
American journal of human genetics - 1 Nov 2007
Easton Douglas F, Deffenbaugh Amie M, Pruss Dmitry, Frye Cynthia, Wenstrup Richard J, Allen-Brady Kristina, Tavtigian Sean V, Monteiro Alvaro N A, Iversen Edwin S, Couch Fergus J, Goldgar David E
Abstract excerpt
Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare nontruncating sequence variants in these genes is problematic, because it is not known whether these subtle changes alter function sufficiently to predispose cells to cancer development. Using data from the Myriad Genetic Laboratories...
Topics
- Adult
- Aged
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- Female
- Genetic Predisposition to Disease
- Humans
- Likelihood Functions
- Male