One in 7 people born in the Caribbean had a hereditary disease with breast or ovarian cancer with a pathogenic variant of action, which allows for targeted therapeutic treatment and the use of detailed prevention strategies, according to results from a study recently published in Open JAMA Network.1
Results from the study showed that 98.1% (n = 999) of 1018 patients had breast cancer, and 2.1% (n = 21) had ovarian cancer. In addition, of the 1015 patients for whom data were available, 14.2% (n = 144) were found to have a pathogenic or pathogenic variation in a gene associated with hereditary breast cancer and ovarian cancer syndrome. . Notably, 64% of patients had these variables BRCA1, 23% were included BRCA2, 9% in PALB2, and 4% in. RAD51C, CHEK2, ATM, STK11, and NBN.
It was noted that patients in the Bahamas had the highest proportion of hereditary breast cancer and ovarian cancer at 23%; this was followed by Barbados (17.9%), Trinidad (12%), Dominica (8.8%), Haiti (6.7%), Cayman Islands (6.3%), and Jamaica (4.9%).
“This genetic society study was a large, unique and multinational study of breast and ovarian cancer in the Caribbean population. Pathogenic variations in breast cancer genes of BRCA1, BRCA2, and PALB2 they are common causes of breast cancer in Caribbean women, ”wrote Sophia George, PhD, research assistant professor at the Sylvester Comprehensive Cancer Center in the University of Miami Health System, and colleagues. “People of African descent are harassed and treated in breast and gynecologic cancer conditions. Targeted genetic testing of upright BRCA1 and BRCA2 there are not enough women in the Caribbean, and a panel heterogeneity test should be recommended. ”
Approximately 40 million people live in the Caribbean and the majority of patients are of African descent with the genetic appearance of Indigenous, Asian, Indian, European and Middle Eastern immigrants. Importantly, breast cancer is a leading cause of cancer-related deaths in these women; in fact, in some countries, this has a major impact on young women.
Despite the high levels of breast and ovarian cancer seen in the Caribbean, and the relatively young age of the patients at the time of the presentation, researchers were trying to reduce the rate of breast and ovarian cancers. was found in selected countries within the Caribbean as a means of gaining a better understanding of various disease changes across the region.
To do this, researchers intended to consider the notions involved in harboring a pathogenic variable or pathogenic appearance when diagnosed with these diseases at an early age. They also performed multivariate testing for hereditary breast genes and ovarian cancer in individuals living in 7 Caribbean countries: the Bahamas, the Cayman Islands, Barbados, Dominica, Haiti, Jamaica, and Trinidad. and Tobago.
The cross-sectional study of Caribbean female cancer was conducted between June 2010 and June 2018 in 1018 patients with invasive breast cancer and / or ovarian cancer residing in the Caribbean. Individuals were identified by the following: physician treatment, local cancer associations, hospital and pathology records, and outpatient clinical oncology clinical records. Researchers also recruited participants through the use of a variety of media.
To be eligible for enrollment, patients had to have pathologic knowledge of breast cancer and / or ovarian cancer, at least 1 grandparent born in 1 of the 7 selected countries, and required be able to grant consent, as well as sample saliva.
All samples collected from patients in next generation sequence (GNA) and test extension were relied on multiplex ligation to allow identification of all types of changes. Everyone was scratched first BRCA1, BRCA2, PALB2, and RAD51 changes in the phase 1 portion of the research.
In phase 2, those living in Barbados, the Cayman Islands, Dominica, and Haiti received a full GNA of 30 genes. Those living in Jamaica and Trinidad who had a family history of both cancer, less than 40 years of age, and who tested negative for the variables studied in stage 1 , reviewed using a multivariate test.
Following these test results, participants were identified as having pathogenic changes, or those that directly contribute to the development of diseases; that pathogenic changes are likely, or those with more than 90% evidence that the variant is causing disease; or having a combination of unknown importance (VUS).
Of the 1018 participants enrolled in the study, the majority (n = 996) were female, 21 females had ovarian cancer and 3 males had breast cancer. Notably, 86% of patients with breast cancer had a self-detection mass and sought medical attention, confirming that detection of disease by mammogram was not uncommon.
More than half of the women diagnosed with breast cancer (63%) were premenopausal, and the average age at the time of diagnosis was 46.6 years. The average age was 47.6 years in those diagnosed with ovarian cancer. Deficiencies in age- and population-based cancer records were noted in Trinidad and Tobago and Barbados.
Out of 607 patients with stage I disease at the time of diagnosis, 33.4% had stage III disease and 5.9% had stage IV disease. Those living in Haiti had the highest percentage of advanced stage disease, at 64.7%, while the lowest percentage was observed in Cayman Island residents, at 11%.
A total of 144 variable carriers were identified in the study group. Among the carriers for breast cancer, the average age was 40.7 years; these were significantly younger than those without germline changes, according to the study’s investigators (P. = .03). Approximately 44% (n = 29/66) of carriers were diagnosed with triple-negative breast cancer (TNBC) versus 21.1% of non-tumors (n.P. <.001).
In addition, 50.5% of participants were found to have a family history of either primary or secondary stage breast cancer, and 11.3% had relatives with ovarian cancer. About half of those with VUS had a family history of breast cancer, while 8.5% had a history of ovarian cancer. Any family history of breast cancer was linked to a BRCA1 variable (odds ratio) [OR], 4.87; 95% CI, 2.82-8.42; P. <.001) no a BRCA2 variable (OR, 3.07; 95% CI, 1.40–6.71; P. = .005).
Specifically, of those Caribbean-born people with breast cancer, who had a first- or second-degree family member with the disease, were associated with none. BRCA1 no BRCA2 germline variable (OR, 1.58; 95% CI, 1.24–2.01; P. <.001). Getting a BRCA1 TNBC vs. a was found to have a stronger association BRCA2 variable (OR, 6.33; 95% CI, 2.05–19.54; P. = .001).
“These data could be useful in screening, raising awareness of cancer risk, and promoting risk-reduction strategies in people of Caribbean descent and family members without their influence,” the study authors concluded . “Awareness of the higher risks among these patients could help reduce morbidity and increase care in an already disadvantaged health group. ”
Information
- George SHL, Donenberg T, Alexis C, et al. Gene sequence for pathogenic changes in adults with breast and ovarian cancer in the Caribbean. JAMA Netw Open. 2021; 4 (3): 210307. doi: 10.1001 / jamanetworkopen.2021.0307
This article was originally published on OncLive as, “1 in 7 Caribbean adults with breast or ovarian cancer has pathogenic differences in function.”