Elucidation of the BRCA Mutation in the Ashkenazi Jewish Population

Abstract

In 1994, Dr. May-Claire King and her research team at the University of Washington, discovered a region of DNA that was associated with breast cancer and which soon became identified as the BRCA1 gene. A year later another region of DNA, on a different chromosome, was identified with an association to both breast and ovarian cancer and which became identified as the BRCA2 gene [1]. For simplicity and unless there is a specific rationale, in this paper both the BRCA1 and BRCA2 genes will be included in the term “the BRCA gene.” Not only is the BRCA gene a major topic of research because of its familial transmission, but also because in 2013, Angelina Jolie, a famous American actress and humanitarian, tested positive for the BRCA mutation. She underwent the radical preventative measure of prophylactic surgery, specifically a double mastectomy, before the age of forty [2]. Angelina Jolie brought the BRCA gene and the option of preventative surgery to the attention of many American women, including American Jewish women. Familial inheritance of the BRCA gene became an important discussion in the Ashkenazi Jewish population, as data linking the BRCA mutation to the Ashkenazi Jewish population emerged.