Investigation of Trinucleotide Repeat Expansion in Familial Breast Cancer
Abstract
Our approach is based on the hypothesis that genetic anticipation occurs in some breast cancer families, and is characterized by a decrease in age of onset of the disease in successive generations of affected family members. Our objective is to identify putative breast cancer predisposition gene(s) which have undergone intergenerational expansions of trinucleotide repeats during germline transmission from mother to daughter using the Rapid Expansion Detection System. Recent investigations in other genetic diseases have revealed that anticipation is the result of expansion of trinucleotide repeats in disease susceptibility genes. We have successfully established the system for fragmentation of the digested DNA and its extraction from the gel slices. This provides better resolution of the repeats in the genome. Ligation reaction in the presence of a designed positive Androgen Receptor control sample has been optimized and vertical gel separation conditions have been established. Currently we have been optimizing the method to increase the signal detection of the repeats. Our approach has the potential to allow the rapid identification of novel breast cancer predisposition genes which will provide obvious benefits for families with breast cancer, as well as the potential for insights into the pathobiology of this devastating disease.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2000
- Accession Number
- ADA387672
Entities
People
- Hilmi Ozcelik
Organizations
- Mount Sinai Hospital, Toronto