TITLE:
Genomic Landscape of Hereditary Cancer in Cameroon: Comprehensive Analysis of 94 Patients Undergoing Multigene Germline Testing in the GENCAF Program
AUTHORS:
Berthe Sabine Esson Mapoko, Kenn Chi Ndi, Vanessa Mouaye, Prisca Adejumo, Olutosin Awolude, Nasser Nsangou Moun, Kareen Azemafac, Cyril Wilfried Missinga, Lynda Montheu, Lionel Bala, Zainab Abba, Lionel Tabola, Pelagie Douanla, Bonaventure Dzekem, Dezheng Huo, Olufunmilayo Olopade, Paul Ndom
KEYWORDS:
Cameroon, Hereditary Cancer, BRCA1, Genomics, Multigene Panel, Sub-Saharan Africa, VUS, Lynch Syndrome, PALB2
JOURNAL NAME:
Journal of Cancer Therapy,
Vol.17 No.5,
May
21,
2026
ABSTRACT: Background: Hereditary cancer is increasingly recognized as a major contributor to the oncology burden in Africa. Cameroon, like most sub-Saharan countries, had long lacked access to structured genetic counseling and germline testing. Through the Genetic Cancer Families (GENCAF) initiative—whose acceptability was established in a prior feasibility study and whose implementation is described separately—we conducted a systematic multigene panel sequencing of cancer patients in the country. Methods: We performed a cross-sectional analysis of 94 consecutive cancer patients enrolled in the GENCAF program between May 2022 and December 2023. All participants received standardized pre-test counseling and saliva-based DNA sampling. Sequencing was performed using a 29-gene hereditary cancer panel. Variants were classified according to American College of Medical Genetics and Genomics (ACMG) criteria. We analyzed the prevalence, spectrum, and clinical correlates of pathogenic/likely pathogenic (P/LP) variants, variants of uncertain significance (VUS), and multi-gene variant profiles across all cancer types. Results: Among 94 individuals tested (mean age 43.4 years, 95.7% women), breast cancer was the predominant diagnosis (87.2%). Germline P/LP variants were identified in 27.7% (26/94; 25 pathogenic, 1 likely pathogenic). Breast Cancer gene (BRCA) 1 accounted for 69.2% of all P/LP findings. VUS were present in 26.6% of patients across 13 genes. Eight patients (8.5%) carried co-occurring P/LP and VUS in different genes. Pathogenic variants were more common in individuals with a family history (33%) than without (16%; p = 0.12). Conclusion: This study provides a detailed genomic mapping of hereditary cancer susceptibility in Cameroon. The high prevalence of BRCA1 P/LP variants, substantial VUS burden across 13 genes, and early age at diagnosis highlight the urgency of integrating genetic counseling and testing into national cancer control strategies.