Our Study

Purpose

- Discover unidentified genetic factors which may influence a woman's risk to develop breast or ovarian cancer.  

- Identify novel genetic factors which may modify the risk of cancer development with a known BRCA mutation.

Overall, in the future, we hope to be able to use this information to develop personalized genetic testing for hereditary breast and ovarian cancer which can give more accurate information about the chance to develop cancer.  Comprehensive testing which includes all genetic and personal risk factors will allow improved detection, prevention, and treatment of breast and ovarian cancer in Ashkenazi women.

Visit our Learn More page or FAQ page for additional information about breast cancer genetics. 

Study Design

Our research is a genome-wide association study.  This type of study is used by researchers to discover genetic factors which may be related to common health conditions such as asthma, heart disease, diabetes, and cancer.  In these studies, the entire genetic code (genome) is scanned, and many markers are analyzed.  Thousands of people are enrolled in these studies and are divided into two groups: those with the disease and those without.  

Analysis 

The genetic material, or DNA, will be extracted from the saliva sample and analyzed in two ways:

▪ The anonymous DNA sample will be tested for the three mutations in the BRCA1 and BRCA2 genes that are most common in individuals of Ashkenazi Jewish ancestry.

▪ The anonymous sample will then be analyzed for specific genetic markers throughout the entire genome.  In our study, the frequency of genetic markers in high risk women will be compared to their frequencies in the group of low risk women.  Likewise, to identify genetic modifiers in BRCA1 or BRCA2 mutation carriers, we will compare SNP frequencies of BRCA carriers that have developed cancer to those that are older and have not developed cancer.

In the future, these SNPs will be researched further to determine the biological basis of how these genetic markers may contribute to the development of breast and ovarian cancer, how they may interact with each other, and, finally, how we can use all of these findings to develop a comprehensive risk assessment model including many genetic risk factors as well as personal and lifestyle risk factors.

Results

All samples used in our study will be anonymous; therefore, you will not receive individual results from this study.  Once you enroll, a study identification number is assigned to your saliva sample and your information.  

The overall data, not individual data, will be written up and published in a scientific journal, and reported to all study participants.  If you wish to pursue clinical genetic testing, Lauren Carpiniello, MS, CGC, our coordinating genetic counselor would be happy to meet with you or help you to find a genetic counselor in your area.  To make an appointment with Lauren for clinical genetic counseling, please call our office at 212-263-5746.