We are studying the genetic basis of familial breast cancer.
Genome instability in familial breast cancer with BRCA1+ predisposition
BRCA1 plays an essential role in maintaining genome stability. Inherited BRCA1 germline predisposition (BRCA1+) leads to high risk of breast cancer by causing genome instability. However, the knowledge of genome instability caused by BRCA1+ is largely derived from breast cancer cells reflecting somatic genome instability. BRCA1+ predisposition occurs at the fertilization but breast cancer will develop at the reproduction stage in BRCA1+ carriers. Cancer development is a long process involving multiple-steps. We consider that the germline genome in BRCA1+ carrier could be affected by BRCA1+ predisposition as the early “hits” during the development of the carrier far ahead of the time of cancer development, in promoting the transformation of normal breast cells into cancer cells. We are analyzing such a possibility by analyzing the germline genome in multiple breast cancer families with BRCA1+ predispositions.
Genetic basis of breast cancer-resistance in familial breast cancer inherited with BRCA1+ predisposition
In BRCA1+ families, up to 80% of the family members who inherited BRCA1 mutations will develop breast cancer by age of 70. However, around 20% of the family members who also inherited the same BRCA1 predisposition will never develop breast cancer in their lifetime. This phenomenon is named as breast cancer-resistance. We are studying the genetic basis of breast cancer-resistance through comprehensive analysis of the genomes between the breast cancer-affected and the breast cancer-unaffected members in the disease families.
Genetic basis in familial breast cancer without known predispositions
Genetic predisposition is the primary risk factor for familial breast cancer. However, over 60% of familial breast cancer families don't contain the known predispositions (BRCAx), regardless the fact that the disease families are typical autosomal dominant disease following Mendelian genetics. We are developing genomics-based approaches to locate the unknown predisposition in the disease families through mapping the functional elements of promoters, enhancers, coding exons in the disease genomes.
San Ming Wang, Associate Professor
Yeong C. Kim, Assistant Professor
Bradley Downs, PhD Student
Jian Cui, PhD Student
Centers & Core Facilities
Bioinformatics and Systems Biology Core
- DNA Sequencing
- Electron Microscopy
Experimental Irradiation Facility
Mouse Genome Engineering Core
- Starting a Project
- Bioinformatics and Systems Biology Core
Advanced Anatomy Laboratory
- Research Labs