TY - JOUR
T1 - Targeted gene panel sequencing of liquid and tissue biopsies reveals actionable genomic alterations in Ghanaian metastatic breast cancer cases
AU - Amoako, Emmanuella
AU - Amuzu, Setor
AU - Ofori, Emmanuel Owusu
AU - Akligoh, Harry Sefoga
AU - Tackie, Randy
AU - Ibrahim, Barikisu Anna
AU - Quaye, Emmanuel Kofi
AU - Akakpo, Patrick Kafui
AU - Aniakwo, Luke Adagrah
AU - Jimah, Bashiro
AU - Ulzen-Appiah, Kofi
AU - Hutchful, David
AU - Manu, Aida
AU - Ngoi, Joyce M.
AU - Paemka, Lily
AU - Alhassan, Yakubu
AU - Obeng, Ernest Amo
AU - Lim, Nicole
AU - Rajah, Lisa
AU - Pek, Michelle
AU - Challis, Jack
AU - Rahman, Ganiyu Adebisi
AU - Tan, Min Han
AU - Bediako, Yaw
N1 - Publisher Copyright:
© 2024
PY - 2024/11
Y1 - 2024/11
N2 - 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.
AB - 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.
KW - Breast cancer
KW - Ghanaian women, liquid biopsy, actionable genomic alterations, targeted treatment
UR - http://www.scopus.com/inward/record.url?scp=85201627843&partnerID=8YFLogxK
U2 - 10.1016/j.tranon.2024.102100
DO - 10.1016/j.tranon.2024.102100
M3 - Article
AN - SCOPUS:85201627843
SN - 1936-5233
VL - 49
JO - Translational Oncology
JF - Translational Oncology
M1 - 102100
ER -