The most common type of ovarian cancer, high grade serous ovarian cancer, is typically diagnosed at a late stage, when it has already metastasized throughout the abdomen and shows aggressive growth. When diagnosed at this late stage women have only about 25% of surviving longer than 5 years. There has been little progress in the development of new chemotherapy agents to treat the disease. Taking a new approach by focusing on improving prevention of disease, rather than treatment of disease shows great potential to save the lives of women who would otherwise die from ovarian cancer. The discovery of changes in the sequence of the BRCA1 and BRCA2 genes as causes for ovarian cancer has allowed preventative surgeries to be performed, saving the lives of thousands of women who were at very high risk to go on and develop ovarian cancer. However, only ~15% of women who get ovarian cancer carry genetic changes in these genes. After years of genetic studies we know that there are many additional genes and regions in the genome that can increase a woman’s risk for ovarian cancer. We also know that there are many genetic changes that can increase risk for ovarian cancer that we are yet to discover. We recently completed a study where we found that another class of genetic change – known as a copy number variant, where parts of our genome are deleted or duplicated, is also a type of genetic change that can increase risk for ovarian cancer. These deletions and duplications can remove or add parts of a gene or the regions of the genome that control when a gene is turned on and off, disrupting normal biological function. In our previous study we used a large collaborative group of samples to look at very rare copy number changes, or deletions and duplications in the genome, as genetic variants that cause ovarian cancer risk. In this project we will now look at all of these types of genetic variants, those that are rare and those that are common. We have collected the largest cohort of ovarian cancer cases and non-ovarian cancer control samples with genetic data from across their entire DNA sequence to perform this research. This will allow is to build a more complete map of the genetic architecture of ovarian cancer.
