After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population

摘要

On May 14, 2013 Angelina Jolie [2013] revealed that she has a deleterious BRCA1 gene mutation associated with hereditary breast and ovarian cancer (HBOC) and on June 13, the Supreme Court ruled that human genes are not patentable [Kesselheim et al., 2013]. While BRCA gene testing has been available commercially for over a decade, these specific events have increased awareness about gene testing and expanded genetic testing options Many years ago, the general public heard of BRCA gene mutations as Jewish mutations since Ashkenazi Jews have a high carrier frequency of BRCA gene mutations, but now we know that BRCA gene mutations occur in women of all backgrounds, including a celebrity of French Canadian and Dutch decent named Angelina Jolie. Angelina's story lets women know that, regardless of ethnic ancestry, a personal or family history of early breast and ovarian cancer should in turn raise the question of whether BRCA gene testing is indicated. In Angelina's case, it was a strong family history of ovarian (mother) and breast (maternal aunt) cancer.