{"title":"非洲人群乳腺癌的基因组景观:系统回顾。","authors":"Nduta Mugo, Gianmarco Contino","doi":"10.1038/s41523-025-00809-9","DOIUrl":null,"url":null,"abstract":"<p><p>Breast cancer in African women carries high mortality, yet genomic data from continental African cohorts are limited. We conducted a systematic review of next-generation sequencing based observational cohort studies of somatic breast cancer genomes in women of African ancestry, from January 2004 to September 2024. Extracted genomic features-driver mutations, copy-number alterations, structural-variants, tumour mutational burden and mutational signatures-were contrasted against TCGA's Black/African American and White reference cohorts. Ten studies from seven countries met inclusion criteria. Main findings were higher rate of triple-negative breast cancer, higher rate of TP53 and lower rate of PIK3CA mutations compared with TCGA White. African tumours also exhibited elevated TMB, CNA and SV burden. Mutational signatures revealed enriched homologous recombination deficiency and APOBEC activity. Despite small, heterogeneous cohorts and regional gaps, these distinct somatic landscapes suggest PARP, PI3K and immunotherapy targets. Coordinated sequencing efforts are urgently needed to drive precision oncology in Africa.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"91"},"PeriodicalIF":7.6000,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354838/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genomic landscapes of breast cancer in African populations: a systematic review.\",\"authors\":\"Nduta Mugo, Gianmarco Contino\",\"doi\":\"10.1038/s41523-025-00809-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Breast cancer in African women carries high mortality, yet genomic data from continental African cohorts are limited. We conducted a systematic review of next-generation sequencing based observational cohort studies of somatic breast cancer genomes in women of African ancestry, from January 2004 to September 2024. Extracted genomic features-driver mutations, copy-number alterations, structural-variants, tumour mutational burden and mutational signatures-were contrasted against TCGA's Black/African American and White reference cohorts. Ten studies from seven countries met inclusion criteria. Main findings were higher rate of triple-negative breast cancer, higher rate of TP53 and lower rate of PIK3CA mutations compared with TCGA White. African tumours also exhibited elevated TMB, CNA and SV burden. Mutational signatures revealed enriched homologous recombination deficiency and APOBEC activity. Despite small, heterogeneous cohorts and regional gaps, these distinct somatic landscapes suggest PARP, PI3K and immunotherapy targets. Coordinated sequencing efforts are urgently needed to drive precision oncology in Africa.</p>\",\"PeriodicalId\":19247,\"journal\":{\"name\":\"NPJ Breast Cancer\",\"volume\":\"11 1\",\"pages\":\"91\"},\"PeriodicalIF\":7.6000,\"publicationDate\":\"2025-08-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354838/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"NPJ Breast Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41523-025-00809-9\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"NPJ Breast Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41523-025-00809-9","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
Genomic landscapes of breast cancer in African populations: a systematic review.
Breast cancer in African women carries high mortality, yet genomic data from continental African cohorts are limited. We conducted a systematic review of next-generation sequencing based observational cohort studies of somatic breast cancer genomes in women of African ancestry, from January 2004 to September 2024. Extracted genomic features-driver mutations, copy-number alterations, structural-variants, tumour mutational burden and mutational signatures-were contrasted against TCGA's Black/African American and White reference cohorts. Ten studies from seven countries met inclusion criteria. Main findings were higher rate of triple-negative breast cancer, higher rate of TP53 and lower rate of PIK3CA mutations compared with TCGA White. African tumours also exhibited elevated TMB, CNA and SV burden. Mutational signatures revealed enriched homologous recombination deficiency and APOBEC activity. Despite small, heterogeneous cohorts and regional gaps, these distinct somatic landscapes suggest PARP, PI3K and immunotherapy targets. Coordinated sequencing efforts are urgently needed to drive precision oncology in Africa.
期刊介绍:
npj Breast Cancer publishes original research articles, reviews, brief correspondence, meeting reports, editorial summaries and hypothesis generating observations which could be unexplained or preliminary findings from experiments, novel ideas, or the framing of new questions that need to be solved. Featured topics of the journal include imaging, immunotherapy, molecular classification of disease, mechanism-based therapies largely targeting signal transduction pathways, carcinogenesis including hereditary susceptibility and molecular epidemiology, survivorship issues including long-term toxicities of treatment and secondary neoplasm occurrence, the biophysics of cancer, mechanisms of metastasis and their perturbation, and studies of the tumor microenvironment.