Personal Stories, Research, Global
By: Susan G. Komen
My career as a clinical researcher grew out of my need to solve a vexing clinical question. Patients in my Miami practice commonly presented with locally advanced breast cancer (tumors of 10, 15 and even 20 cm) while those I treated during residency in the Northeast presented with tumors no larger than 3 cm. It was the early 90’s and when I turned to the literature for answers, there was little written on the subject. This led me to write my first clinical trial (the use of MVAC as neoadjuvant therapy in locally advanced breast cancer). I have written a series of clinical trials, each one building upon the lessons learned from the one before to improve the treatment of locally advanced breast cancer. These trials include Cisplatinum-based regimens, Herceptin-based regimens, hormonal regimens and dose-dense regimens as neoadjuvant therapy.
Miami is a dynamic city with a boisterous multiethnic, multiracial, multicultural milieu and my patients are drawn from this mix. Demographically speaking, they are largely women of color, young women and immigrants from the Caribbean Basin, South and Central America. I began to notice that my Bahamian patients were particularly young. I gathered some preliminary data that showed that 52 percent* of the women with breast cancer were 50 or under at the time of diagnosis and that 42 percent* of these women were diagnosed with late-stage breast cancer at presentation compared with 12 percent of American women.
Based on this preliminary data I was awarded a two-year grant from Komen for the Cure to evaluate the genetic risk of Bahamian women with breast and ovarian cancer in 2009. Given the young age of Bahamian patients, it suggested a genetic component to their disease.
BRCA1 and BRCA2 are the most well-known genes linked to breast cancer risk, and together are thought to explain a large portion of hereditary breast and ovarian cancers. Women who carry a BRCA1/2 gene mutation, which can be inherited from the mother’s or father’s side of the family, have a much higher risk of developing breast cancer.
In order to conduct this research, which was done in collaboration with local oncologists, local advocates , the Cancer Society of the Bahamas branches in New Providence, Abaco and Eleuthera, the Association of Grand Bahama and support from the Ride For Hope, we screened women with breast cancer from 200 Bahamian families for BRCA 1/2 gene mutations. We were astounded to discover that 28 percent* of Bahamian women with invasive breast cancer tested in our study had one of these mutations. This is the highest reported rate of hereditary breast cancer in the world.
I now work toward finalizing a Bahamas Mutation Panel which will be a cost-effective test to screen women of Bahamian descent for BRCA1/2 mutations. Early detection of breast cancer is so critical for Bahamian women and I know that the development of an inexpensive screening method along with working with the Bahamian Ministry of Health to set new screening guidelines for this high-risk population will save lives.
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