Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean

George, Sophia; Donenberg, Talia; Alexis, Cheryl; DeGennaro, Vincent; Dyer, Hedda; Yin, Sook; Ali, Jameel; Butler, Raleigh; Chin, Stephanie; Curling, DuVaughn; Lowe, Dwight; Lunn, John; Turnquest, Theodore; Wharfe, Gilian; Cerbon, Danielle; Barreto-Coelho, Priscila; Schlumbrecht, Matthew; Akbari, Mohammad Reza; Narod, Steven A.; Hurley, Judith

doi:10.1001/jamanetworkopen.2021.0307

Cited by 22 publications

(20 citation statements)

References 45 publications

(53 reference statements)

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“…The prevalence of 83.9% by late-stage diagnosis mentioned earlier (Patient Demographics) corresponds to Fadelu et al [ 33 ] whose cohort had 53.4% late-stage tumors (given that 23.5% were of an unknown stage). In addition, George et al [ 71 ] found the highest percentage of advanced-stage disease in Haiti in comparison to other Caribbean countries studied, where 64.7% (44 of 68) had stage III/IV BC. In 2010, Kobetz et al [ 72 ] paralleled 45% regional/distant metastatic BC cases at diagnosis among Haitians living in Miami to only 10% among comparable ethnic/sociodemographic neighboring groups.…”

Section: Reviewmentioning

confidence: 99%

“…Immunohistochemistry tests for receptor status (ER/HER2/PR) of tumors are unavailable in Haiti and are outsourced in the United States (reliant on patient affordability) making clinicopathologic data limited in both quantity and quality [ 32 , 71 ]. DeGennaro et al [ 32 ] reported invasive ductal carcinoma in 87.3% of women, with a prevalence of 51.8% ER+ tumors (supposed overestimation due to over fixation), 19.6% HER2+ tumors, and 38.5% TNBC.…”

Section: Reviewmentioning

confidence: 99%

“…The Caribbean Women’s Cancer Study is a cross-sectional study of patients with invasive BC and/or ovarian cancer born in the Caribbean. Their most recent publication based on a multisite genetic association study discovered a one in seven chance of having hereditary breast and ovarian cancer among Caribbean-born individuals with breast and ovarian cancer [ 71 ]. This supports the recommendation for multigene (panel) testing in this region, particularly for individuals with a family history of BC.…”

Section: Reviewmentioning

confidence: 99%

“…In Dominica, George et al (2021) [ 71 ] reported 4 of 61 BC patients had a germline variant in BRCA2 and PALB2 recurrent variants.…”

Section: Reviewmentioning

confidence: 99%

“…George et al (2021) [ 71 ] found 6.7% (5 of 75) of Haitian BC patients had a variant in BRCA1 , BRCA2 , or PALB2 with the second-highest distribution of BRCA2 germline mutations.…”

Section: Reviewmentioning

confidence: 99%

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Breast Cancer in the Caribbean

Samaroo¹,

Hosein²,

Olivier³

et al. 2021

Cureus

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Breast cancer (BC) is one of the leading causes of death among women globally. In the Caribbean, there is a higher mortality rate compared with North American and European countries which have higher incidence rates. We conducted a literature review to examine the BC dynamic in the Caribbean and determine the areas where further investigations are needed. The PubMed database was used for identifying relevant studies using a combination of specific keyword searches. All studies focusing on BC within the defined Caribbean population were selected for this review. A total of 117 papers were included. The data were organized and presented under the following headings and reported according to the country where available: BC incidence and mortality, patient demographics, clinicopathology, genetics, behavioral risks, diagnosis and treatment, and BC control. Our review uncovered major variability in the incidence, management, etiology, and mortality of BC among Caribbean countries. Low-resource countries are burdened by more advanced disease with expected poorer BC outcomes (i.e., shorter periods of disease-free survival). Countries with established national cancer registries seem to have a better approach to the management of BC. The introduction of cancer treatment programs in association with international nonprofit groups has shown tremendous improvement in quality, accessible cancer care for patients, particularly in low- and middle-income settings. BC research is relatively limited in the Caribbean, lacking in both scope and consistency. The unique Caribbean BC population of diverse ethnicities, environmental influence, immigrants, socioeconomic status, and sociocultural practices allows an optimal opportunity for epidemiological investigations that can provide deeper insights into the status of BC.

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Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

“…In Dominica, George et al (2021) [ 71 ] reported 4 of 61 BC patients had a germline variant in BRCA2 and PALB2 recurrent variants.…”

Section: Reviewmentioning

confidence: 99%

“…George et al (2021) [ 71 ] found 6.7% (5 of 75) of Haitian BC patients had a variant in BRCA1 , BRCA2 , or PALB2 with the second-highest distribution of BRCA2 germline mutations.…”

Section: Reviewmentioning

confidence: 99%

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Breast Cancer in the Caribbean

Samaroo¹,

Hosein²,

Olivier³

et al. 2021

Cureus

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Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer

Hercules

Liu

Bassey-Archibong

et al. 2022

Cancer Causes Control

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Purpose Triple negative breast cancer (TNBC) is an aggressive breast cancer subtype that disproportionately affects women of African ancestry (WAA) and is often associated with poor survival. Although there is a high prevalence of TNBC across West Africa and in women of the African diaspora, there has been no comprehensive genomics study to investigate the mutational profile of ancestrally related women across the Caribbean and West Africa. Methods This multisite cross-sectional study used 31 formalin-fixed paraffin-embedded (FFPE) samples from Barbadian and Nigerian TNBC participants. High-resolution whole exome sequencing (WES) was performed on the Barbadian and Nigerian TNBC samples to identify their mutational profiles and comparisons were made to African American, European American and Asian American sequencing data obtained from The Cancer Genome Atlas (TCGA). Whole exome sequencing was conducted on tumors with an average of 382 × coverage and 4335 × coverage for pooled germline non-tumor samples. Results Variants detected at high frequency in our WAA cohorts were found in the following genes NBPF12, PLIN4, TP53 and BRCA1. In the TCGA TNBC cases, these genes had a lower mutation rate, except for TP53 (32% in our cohort; 63% in TCGA-African American; 67% in TCGA-European American; 63% in TCGA-Asian). For all altered genes, there were no differences in frequency of mutations between WAA TNBC groups including the TCGA-African American cohort. For copy number variants, high frequency alterations were observed in PIK3CA, TP53, FGFR2 and HIF1AN genes. Conclusion This study provides novel insights into the underlying genomic alterations in WAA TNBC samples and shines light on the importance of inclusion of under-represented populations in cancer genomics and biomarker studies.

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