Dr. George on Actionable Pathogenic Variants in Adults With Breast or Ovarian Cancers in the Caribbean


Sophia George, PhD, discusses actionable pathogenic variants in patients with breast cancer who live in the Caribbean.

Sophia George, PhD, a research assistant professor at Sylvester Comprehensive Cancer Center of the University of Miami Health System, discusses actionable pathogenic variants in patients with breast cancer who live in the Caribbean.

In total, 14.2% of 1015 evaluable participants with either breast or ovarian cancer who were evaluated in a multinational, genetic association study published in JAMA Network Open, had a germline pathogenic mutation variant, including BRCA1/2 and PALB2, as well as other rare variants such as RAD51CNBNSTK11TP53, and CHEK2. This translated to 1 of 7 patients enrolled on the study having a germline variant, which is remarkably high, George says.

Additionally, while the majority of patients from the Caribbean are of African descent, the country has a mixed population of individuals who are Middle Eastern, European, Chinese, and Southeast Asian, George says. This mixed population was reflected in the study and is believed to have impacted the types of mutations that were observed, George explains.

Investigators found that each country had its own spectrum of mutations. Due to this, panel testing should be offered to patients of Carribean ancestry across multiple genes, including rare variants, George concludes.

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