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Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

Patients of African ancestry have worse prognoses and lower survival rates from breast cancer (BC) than non-African patients. Although this is certainly partly due to socio-economic and socio-cultural differences, it is   clear from the data published so far that the African ancestry, by itself, can be considered an independent risk factor. However, the knowledge concerning breast cancer in Africa, particularly in Western Africa, still lack clinical data, medical treatments, and the evaluation of genetic factors implicated in the etiology of the disease, with negative consequences on prevention, awareness and patient management.

Biancolella et al., (2021) analyzed using the Next Generation sequencing (NGS), the coding regions and the exon–intron junctions of BRCA1 and BRCA2 genes—the two most important genes in hereditary breast cancer—in fifty-one women from Burkina Faso with early onset of breast cancer with or without a family history. This study complements the few available studies on the contribution of variants rare and common to BC risk in Africa and provides for the first time information on the use of NGS to identify variants contributing to BC risk in Burkinabe women. This helps to reduce the knowledge gap and stimulates cancer research in Africa.

Articles

  1. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Content type: Meeting Abstracts

HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.


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Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

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Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: Artificial Intelligence (AI) and Genomics

Guest Editors: Kirill A. Veselkov, Imperial College, London, UK; Takashi Gojobori, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

We solicit manuscripts for a topical collection on "AI and Genomics" in Human Genomics.  As you know, human genomics has become one of the most active areas of cutting-edge life sciences and grown to be one of the largest generators of data. In addition to the value of greatly enhanced experimental examination and validation, human genomics relies on emerging, powerful computational approaches, such as Big Data analyses and artificial intelligence (AI) including network science, machine learning, deep learning, text mining, knowledge-based database construction, and even quantum computing. The collection would also be a home for articles focusing on practical applications.

We welcome original articles as well as review papers. Please indicate in your cover letter that your article is intended for the topical collection on "AI and Genomics” and select the collection upon submission. Submissions can also retrospectively be assigned to the collection. Please notify the Journal Editorial Office accordingly.  

We look forward to receiving high-quality submissions of significance that can make further contributions to the field of human genomics.

Call for Papers: Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease

Guest Editors: Giuseppe Novelli, University of Rome Tor Vergata, Italy; Juergen Reichardt,  James Cook University, Australia
The current COVID-19 pandemic has highlighted the importance of science and medicine, specifically public health, in our modern societies. Countries have taken different approaches to the pandemic. Science and medicine will play an important role in our way forward in tackling COVID-19. Specifically, genetics and genomics will be central in discovering variations in virus strains and their impact on patients’ outcome, the hosts’ ability to fend off the virus and the severity of disease in patients. Furthermore, the question of long-term immunity to COVID-19 may have a genetic and genomic basis which should be investigated. Some of these human genetics and genomics investigations will undoubtedly be suitable for publication in Human Genomics. We expressly welcome submissions of manuscripts on such subjects. 

Call for Papers: Genetically Manipulated Animal Models for Human Disease

Guest Editors: Ying Chen, Yale University, USA; Won Yeong Kang, The Jackson Laboratory, USA;  Hassane Mchaourab, Vanderbilt University, USA

In recent decades, genetically manipulated animal models have been developed and used widely in the biomedical research field. Use of animal models thus serves as an important tool to elucidate mechanisms of human disease, as well as to develop new diagnostic and therapeutic strategies for the treatment of these diseases. In this topical collection, we intend to provide up-to-date information on recent genetic animal models, and new knowledge derived from these studies on the pathophysiology, diagnosis and therapeutic drugs of human disease. We invite investigators to contribute original research and review articles that describe: (i) newly developed animal models, (ii) intervention studies using animal models, and (iii) comparisons between existing models for certain diseases.


Call for Papers: Public Health Genomics

Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.


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