Research in the Molecular Pathogenesis Section is focused on defining changes in genes that underlie inherited susceptibilities to common diseases such as cancer, heart disease and birth defects. Currently under investigation are genes involved in inherited breast, ovarian and colon cancer. Studies are designed to better understand the function of these genes in the body and how gene variations in human populations relate to disease susceptibility. Increased understanding of disease susceptibility genes will lead to improved diagnostic procedures and possible preventative therapies. In the past year we have completed a study designed to better estimate breast cancer risk by genotyping the BRCA1 and BRCA2 of over 5,000 individuals. We are now using the same cohort to estimate colon cancer risks. In the process we have developed an new assay for a specific APC gene mutation. Purified BRCA1 has been used to screen for inteacting proteins. We have also determined the genomic structure of the methionine synthase gene and tested its role in the eitiology of neural tube defects.
