Department of Biochemistry

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    Age-specific patterns of breast cancer in Nigerian women unraveled through histological analysis
    (Scientific Reports, 2025) Effiong, Magdalene Eno; Chinedu, Shalom Nwodo; Afolabi, Israel Sunmola; Ezike, Kevin Nwabueze; Oguntebi, Emmanuel Eyitayo; Abdul, Oluwasesan Adelowo; Achusi, Izuchukwu Benerdin; Benye, Tolulope Aanuoluwapo; Omunagbe, Mercy Bella; Ogbodo, Peace Nzubechukwu
    Sub-Saharan African women face a high burden of breast cancer, influenced by genetic and lifestyle factors. However, the lack of comprehensive, age-stratified data hinders the identification of risk factors and the development of effective, population-specific interventions. This study aimed to assess age-related variations in breast cancer prevalence among Nigerian women, providing insight into associated risk factors and disease trends. A retrospective review of 3,263 breast histopathology records (9.46% of total from 2015 to 2023) was conducted. Lesions—benign and malignant—were analyzed across five age groups: children and adolescents (0–19), young adults (20–39), middle-aged (40–59), higher-aged (60–79), and elderly (≥ 80), using MS Excel and GraphPad Prism 8.0. Statistical comparisons were performed by age and lesion type. Most cases were in young adults (45.97%) and middle-aged women (33.83%). The left breast was more commonly affected (46.86%) and had higher malignancy rates than the right (44.41%) or bilateral lesions (7.20%). Benign lesions were predominant (56.76%), especially among young adults (57.34%). Malignancy incidence increased with age, peaking in middle-aged women (53.30%). Fibroadenoma was the most frequent benign lesion in children and adolescents and young adults, while fibrosis predominated in middle age. Invasive ductal carcinoma (IDC) was the leading malignant subtype, with a sharp rise by 2023—particularly among middle-aged (172 cases) and young adult women (71 cases). Among 339 immunohistochemically profiled cases, triple-negative breast cancer (TNBC; 42.77%) and ER+/PR+ tumors (36.87%) were most common. TNBC was the only subtype detected in children and adolescents. Middle-aged women bore the highest burden of all subtypes, with a marked increase in TNBC and ER+/PR+ cases in 2023. The rising incidence of aggressive subtypes, particularly TNBC, highlights the need for enhanced molecular diagnostics and personalized therapies. Age-specific trends reinforce the urgency for targeted screening, especially for young and middle-aged Nigerian women.
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    Knowledge, practices, and perceptions towards malaria prevention and control among Residents of Canaanland and surrounding areas in Ota, Ogun State, Nigeria: a cross-sectional study
    (Frontiers in Tropical Diseases, 2025-10-13) Wakai, Theophilus N.; Fiamitia, Carrin; Kintung, Irrinus; Johngwe, Mac; Chinedu, Shalom; Afolabi, Israel S.
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    Exome sequencing in Nigerian children with early-onset epilepsy syndromes
    (Epilepsia Open, 2024-10-31) Ademuwagun, Ibitayo Abigail; Adam, Yagoub; Rotimi, Solomon Oladapo; Syrbe, Steffen; Radtke, Maximilian; Hentschel, Julia; Lemke, Johannes R.; Adebiyi, Ezekiel
    Objective: Nigeria, along with other Sub-Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies. Genetic testing is rarely available and is not typically included in the routine diagnostic work-up for individuals with infantile and childhood epilepsy syndromes in these regions. Exome sequencing (ES) offers a diagnostic yield of 24%–62%, but these figures primarily reflect data from high-income countries (HICs) and may not be applicable to low-and middle-income countries (LMICs). In this study, we employed ES to investigate the genetic basis of early-onset epilepsy in 22 affected children from Nigeria. Methods: The study involved sampling of patients diagnosed with early-onset epilepsy syndromes at the Lagos State University Teaching Hospital (LASUTH) Neurology clinic. Venous blood samples were collected, and genomic DNA was isolated and purified. Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole-exome sequencing. Computational analysis involved variant calling, curation, and classification using specialized tools and databases. Results: Pathogenic variants were identified in 6 out of 22 individuals, equaling a diagnostic yield of 27.3% and comprising variants in BPTF, NAA15, SCN1A, TUBA1A and twice in CACNA1A. Significance: In this study, we present the first exome study on early-onset epilepsy syndromes from West Africa, facilitated by a Nigerian-German research collaboration. Our findings reveal a genetic diagnostic yield comparable to that of HICs. The integration of genomic medicine into epilepsy management in Nigeria holds promising prospects for improving patient care and reducing mortality rates
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    Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients
    (Technology in Cancer Research & Treatment Volume 24, 2025) Onyia, Abimbola F.; Jibrin, Paul; Olatunji-Agunbiade, Temitope; Oyekan, Ademola; Lawal, AbdulRazzaq; Alabi, Adewumi; Sowunmi, Anthonia C.; Aje, Eben A.; Ogunniyi, Oluwabusayo B; Nkom, Ebenezer S.; De Campos, Opeyemi C.; Rotimi, Oluwakemi A.; Oyelade, Jelili O.; Rotimi, Solomon O.
    Background: Breast cancer remains a leading cause of mortality among Nigerian women, with triple-negative breast cancer (TNBC) being particularly prevalent. Variations in BRCA1 and BRCA2 genes remain key risk factors for this disease. However, there are gaps in the frequency and spectrum of these variants in Nigerian populations, as well as a dearth in the local capacity to characterize these variations. Objective: This study aimed at identifying and characterizing the germline variations in BRCA1/2 in Nigerian breast cancer patients and healthy age-matched controls to understand the genetic risk profile of breast cancer in this population. Methods: A prospective case-control study was conducted involving 45 breast cancer patients and 51 controls recruited from four major hospitals. DNA was extracted from blood samples, followed by targeted sequencing of BRCA1/2 exonic and intronic regions using the Ampliseq BRCA panel and Illumina MiSeq platform. Variant calling was performed, clinical significance was evaluated on ClinVar and BRCA Exchange databases, and haplotype analysis was performed using NIH LDlink and Haploview 4.2 software. Results: Pathogenic BRCA1/2 variants were identified in 6.7% of breast cancer patients, all with TNBC and a family history of cancer. Two pathogenic BRCA1 variants were detected: a frameshift deletion BRCA1 c.133_134delAA (p.Lys45 fs) (rs397508857) and a missense variant BRCA1 c.5324T >A (p.Met1775Arg) (rs41293463). A BRCA2 frameshift deletion BRCA2 c.8817_8820del (p.Lys2939 fs) (rs397508010) was also identified. These variants were absent in controls. Haplotype analysis revealed distinct BRCA1 and BRCA2 haplotypes in the breast cancer group. Conclusion: This study identifies key BRCA1/2 pathogenic variants and unique haplotypes in Nigerian breast cancer patients, highlighting the need for population-specific genetic screening. Integrating genetic testing into breast cancer management strategies could facilitate early detection, personalized treatment planning, and genetic counseling in Nigeria.
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    Frequency Of BRCA1 Polymorphisms (rs799917 and rs1799966) Among Nigerian Breast Cancer Patients
    (Covenant University Ota, 2025-03) OGUNNIYI, OLUWABUSAYO BUNMI; Covenant University, Dissertation
    Breast cancer (BCa) is the most diagnosed malignancy among women worldwide, with an estimated 2.3 million new cases and 666,103 deaths recorded in 2022. In Nigeria, BCa remains the leading cause of cancer-related mortality among women, accounting for 32,278 (25.3%) new cases and 16,322 (20.5%) deaths in 2022. Breast cancer gene 1 (BRCA1) is a tumour suppressor gene involved in DNA damage repair, cell cycle regulation, and maintenance of genome stability. Studies suggest that genetic factors, such as Single Nucleotide Polymorphism (SNPs) in the BRCA1 genes, play a pivotal role in the development of cancers. The BRCA1 gene harbors specific SNPs within its coding sequence, including rs799917 and rs1799966. These SNPs interfere with the interaction between BRCA1 mRNA and miR-638, significantly decreasing BRCA1 expression among individuals carrying these variants. Several studies have reported correlations between BRCA1 polymorphisms rs799917 and rs1799966 with the risk of BCa. However, this relationship remains controversial. This study assesses the frequency of BRCA1 rs799917 and rs1799966 polymorphisms and their association with BCa in Nigeria. The case-control study included 500 BCa patients and 200 paired healthy controls. TaqMan genotyping assay was used to determine the genotypes of rs799917 and rs1799966 polymorphisms. Using logistic regression and Pearson's chi-square test, a statistically significant difference (p < 0.05) was identified in the genotype frequencies. The G allele of rs799917(p= 0.017; OR: 1.39) showed significant associations with the risk of breast cancer in Nigeria and, while globally reported as the wild-type allele, is observed as the variant allele in our population. The C Allele of rs1799966 confers a protective risk against breast cancer. Further study should focus on functional genomics to evaluate the interaction between miR-638 and the mRNA in individuals carrying this SNP, particularly in the Nigerian population. Keywords: breast