DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics

Sub-Saharan African women often develop breast cancer at a younger age, with a high prevalence of aggressive subtypes such as triple-negative breast cancer and elevated mortality. Genetic factors may underlie these patterns, but African populations remain underrepresented in genomic research. As an initial step toward addressing this gap, we evaluated DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer blocks collected in anatomic pathology laboratories in Gabon, Togo, and Benin. Although DNA could be successfully extracted, its functional quality was significantly impaired. Quantitative PCR revealed progressive degradation, with poor amplification efficiency for larger fragments, and next-generation sequencing (NGS) libraries exhibited degraded electropherogram profiles, low coverage, and elevated duplication rates. These limitations likely stem from socio-economic constraints, including delayed processing and prolonged formalin fixation, which promote nucleic acid fragmentation and crosslinking. To overcome these barriers, we established a preservation protocol adapted to the resource and infrastructural limitations of the region: storage of biopsies in physiological saline at -20 °C. This method requires only basic equipment widely available in local hospitals, yet yielded DNA of high integrity, enabled efficient library construction, and produced significantly superior NGS performance compared with FFPE-derived DNA. This cost-effective and scalable approach provides a feasible solution for genomic research in resource-limited settings. Future efforts should focus on complementary strategies for RNA preservation and tumor enrichment to enable comprehensive molecular profiling and advance precision oncology in West Africa.

Authors

Institutions

Publication Details

Journal
Cancer Genetics
Published
2025-11-01
DOI
https://doi.org/10.1016/j.cancergen.2025.11.005
Primary Topic
Molecular Biology Techniques and Applications
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics

Tchin Darré, Simon Azonbakin, Sylvain Lacorre, Sidonie Nguizi Ogoula et al.
Cancer Genetics
Molecular Biology Techniques and Applications
article

DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics

Tchin Darré, Simon Azonbakin, Sylvain Lacorre, Sidonie Nguizi Ogoula, Freddy Houéhanou Rodrigue Gnangnon, Alain Chaunavel, Karine Durand, Romulus Takin, Edgard Brice Ngoungou, Arnaud Agbanlinsou, Véronique Blanquet, Pierre‐Marie Preux, Lionel Forestier, Patrice Dangbemey, Alexis Parenté, Nathalie Duprat, Mahiné Ivanga, Mohamad Chkeir, Anatole Lalèyè, Dieu Donné Gnonlonfoun, Maéva Chaumet, Gilbert Fassinou, Rosa-Maria Fassinou
article en

Abstract

Sub-Saharan African women often develop breast cancer at a younger age, with a high prevalence of aggressive subtypes such as triple-negative breast cancer and elevated mortality. Genetic factors may underlie these patterns, but African populations remain underrepresented in genomic research. As an initial step toward addressing this gap, we evaluated DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer blocks collected in anatomic pathology laboratories in Gabon, Togo, and Benin. Although DNA could be successfully extracted, its functional quality was significantly impaired. Quantitative PCR revealed progressive degradation, with poor amplification efficiency for larger fragments, and next-generation sequencing (NGS) libraries exhibited degraded electropherogram profiles, low coverage, and elevated duplication rates. These limitations likely stem from socio-economic constraints, including delayed processing and prolonged formalin fixation, which promote nucleic acid fragmentation and crosslinking. To overcome these barriers, we established a preservation protocol adapted to the resource and infrastructural limitations of the region: storage of biopsies in physiological saline at -20 °C. This method requires only basic equipment widely available in local hospitals, yet yielded DNA of high integrity, enabled efficient library construction, and produced significantly superior NGS performance compared with FFPE-derived DNA. This cost-effective and scalable approach provides a feasible solution for genomic research in resource-limited settings. Future efforts should focus on complementary strategies for RNA preservation and tumor enrichment to enable comprehensive molecular profiling and advance precision oncology in West Africa.

Cancer GeneticsVol. 298-299
Inserm (FR), Université des Sciences de la Santé (GA), Universitas Djuanda (ID), Université d'Abomey-Calavi (BJ), Institut d’Epidémiologie Neurologique et de Neurologie Tropicale (FR), Progamme National Contre le Tuberculose (BJ), Hôpital Dupuytren (FR), Institut de Recherche pour le Développement (FR), University of Lomé (TG), Université de Limoges (FR)
Openalex Percentile: Top 69%
Molecular Biology Techniques and Applications
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.