It’s a pretty tall order to say that you want to determine the risk of developing breast/ovarian cancer in an entire population, much less a third world population. But that’s exactly what one country is doing, the Bahamas. A pilot study in 2010 by a group of physicians revealed that women in the Bahamas have the highest recorded risk of developing hereditary breast cancer. Approximately 24% of women diagnosed with breast or ovarian cancer, in the Bahamas, were due to an inherited mutation within the genes BRCA1 & BRCA2. This was the highest recorded frequency of BRCA mutations, with the second closest demographic population being women of Ashkenazi Jewish descent(11%).  This study derived from the observation that the average age of diagnosis for women with breast cancer was 42 years old. Breast cancer as a disease, is an age-associated infliction, with the median age of diagnosis in the US at 61 year of age. The early onset of breast cancer within the Bahamian population suggested a genetic component, something inherited within the bloodlines. Mutations within the BRCA genes became the primary suspect.

Global Incidence of Breast cancer by Age

From this study developed a consortium of Physicians, scientists, government officials and advocates who sought to provide further understanding of the frequency of these mutations within the Bahamian population. Although inherited BRCA mutations cannot be prevented from being passed on to future generations, their risk of causing cancer can be minimized with great efficacy though surgical intervention or aggressive surveillance. Therefore, the Bahamas Breast Cancer Initiative Foundation (BBCIF) was developed to further understand the overall risk of breast cancer within the entire Bahamian population, and provide genetic counseling for women with the inherited forms of the mutation. Through government funding, community fund raising and generous assistance from the Komen foundation, women in the Bahamas have gained tremendous insight into their BRCA status. Presently in the Bahamas, every woman who wants it is able to receive genetic testing and counseling for mutations within the BRCA genes to determine their relative risk for breast cancer.

The initial 2 year goal of the BBCIF foundation is to test over 2,400 women for mutations within the BRCA genes, with the hope of testing every woman in the Bahamas. Over 90% of the mutations found within the Bahamian population are of a specific type (IVS13-1G>A), known as an African founder mutation. The fact that this mutation has been previously associated with African American women and women from the African diaspora suggests that this mutation may have been inherited over many generations. This research is set to have significant impact for the population of the Bahamas but may also set a global standard for cancer prevention. It is conceivable that the Bahamian population may serve as a microcosm for the Afro-Caribbean, African American & women residing in Africa. Previously, hereditary breast cancer genetic testing was limited to families with an elevated cancer incidence history. Until now this has been a direct result of the exorbitant cost associated with genetic testing partially due to patents limiting competition. With a recent ruling by the US Supreme Court nullifying patents over human genes, the future of genetic testing looks promising. Hereditary breast cancer mutation analysis is poised to become a standard practice, and may become as commonplace as blood typing. The Bahamas and the BBCIF are setting a trend, and their work will have significant impact on the global epidemic that is Breast cancer.

Do you know your risk?

Photo credit: shewatchedthesky / Foter / CC BY-NC-ND