Emmanuella Amoako abc, Setor Amuzu a, Emmanuel Owusu Ofori b, Harry Sefoga Akligoh a, Randy Tackie a, Barikisu Anna Ibrahim a, Emmanuel Kofi Quaye a, Patrick Kafui Akakpo bcd, Luke Adagrah Aniakwo b, Bashiro Jimah bc, Kofi Ulzen-Appiah bc, David Hutchful a, Aida Manu a, Joyce M Ngoi a, Lily Paemka a, Yakubu Alhassan ae, Ernest Amo Obeng d, Nicole Lim f, Lisa Rajah f, Michelle Pek f…Yaw Bediako a
Abstract
Purpose: Breast cancer is a major cause of cancer-related mortality among African women. The adoption of molecular genomic technologies in the management of cancer cases is limited in Africa. To provide much-needed insights on the feasibility and utility of such precision medicine paradigms in Africa, we conducted a prospective, non-interventional study involving combined tissue and plasma Next-generation sequencing (NGS)-based testing in cancer patients in Ghana.
Methods: We recruited 20 newly diagnosed, histologically confirmed, treatment-naïve women with metastatic breast cancer at the Cape Coast Teaching Hospital in Ghana. Tissue (NGS) and cell-free DNA (cfDNA) liquid biopsy analysis were ordered on all 20 patients.
Results: All 20/20 (100 %) liquid biopsy samples were acceptable for analysis, whereas only 6/20 (30 %) passed quality control for tissue NGS testing. Liquid biopsy detected 42 cfDNA mutations in 17/20 patients. Of the 17 patients, 3 (17.6 %) had mutations previously associated with African ancestry, including BRCA1 p.K719E, ARAF p.S262I and GATA3 p.G125dup. Eight potentially actionable alterations specific to breast cancer were found in 6/17 (35.3 %) liquid biopsy samples, while potentially actionable mutations non-specific to breast cancer were detected in 12/17 (70.6 %). Tissue biopsy analysis detected mutations in all 6 patients tested, with 3/6 (50 %) patients presenting potentially actionable mutations relevant to breast cancer.
Conclusion: Liquid biopsy detected multiple additional actionable variants in Ghanaian women with breast cancer. Plasma cfDNA analysis featured fewer variations in sample preparation which is a key consideration in resource-limited settings. Liquid biopsy presents a great opportunity to improve cancer care in Africa.
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- aYemaachi Biotech, 222 Swaniker Street, Accra, Ghana
- bCape Coast Teaching Hospital, Cape Coast, Ghana
- cUniversity of Cape Coast, School of Medical Sciences, Cape Coast, Ghana
- dPathologists without Borders, Accra, Ghana
- eDepartment of Biostatistics, University of Ghana, Accra, Ghana
- fLucence Health Inc, Palo Alto, CA, United States