Common Pathogenic Variants in Breast and Ovarian Cancers: From a Caribbean Perspective
Posted: Monday, May 10, 2021
Research presented in JAMA Network Open suggests that one in seven people of Caribbean ancestry diagnosed with breast or ovarian cancer will have an inherited mutation. As variants in BRCA1, BRCA2, and PALB2 are commonly found in Caribbean-born women and those of Caribbean ancestry, panel testing should be considered for this population, the investigators proposed.
“We found that it was different from island to island,” noted Judith Hurley, MD, of the University of Miami Miller School of Medicine, in an institutional press release. “Each country had its own spectrum of mutations. Each country had its own unique genetic fingerprint.”
The multisite genetic association study included data from 1,018 participants (999 with breast cancer; 21 with ovarian cancer) who had undergone germline genetic tests from June 2010 and June 2018 in the Bahamas, Cayman Islands, Barbados, Dominica, Jamaica, Haiti, and Trinidad/Tobago. Patients who were born in or who had at least one parent or grandparent born in the participating study sites were eligible. The evaluable group totaled 1,015, 144 of whom had a pathogenic or likely pathogenic hereditary breast or ovarian cancer syndrome gene variant. The mean age of those who tested positive for a variant was 40.7 years versus 47.5 years of those who were not mutation carriers.
The majority of variant carriers (64%) had a variant in BRCA1 versus 23% in BRCA2; 9% in PALB2; and 4% in RAD51C, CHEK2, ATM, STK11, and NBN. The proportion of hereditary breast or ovarian cancer was highest for participants from the Bahamas (23%), then Barbados (17.9%), Trinidad (12%), Dominica (8.8%), Haiti (6.7%), Cayman Islands (6.3%), and Jamaica (4.9%). BRCA1 variation was more closely associated with triple-negative breast cancer than BRCA2 variation. Among Caribbean-born patients with breast cancer, carrying a BRCA1 or BRCA2 variant was associated with having an immediate family member with breast cancer.
Disclosure: For full disclosures of the study authors, visit jamanetwork.com.