Putative biomarkers for cervical cancer: SNVs, methylation and expression profiles.

Maria de Fátima Senra Cardoso, Carlos Henrique Madeiros Castelletti, José Luiz de Lima-Filho, Danyelly Bruneska Gondim Martins, José António Couto Teixeira

Journal: Mutation research. Reviews in mutation research 2017;773():161-173

PMID: 28927526

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Abstract

Cervical cancer is primarily caused by Human papillomavirus (HPV) infection, but other factors such as smoking habits, co-infections and genetic background, can also contribute to its development. Although this cancer is avoidable, it is the fourth most frequent type of cancer in females worldwide and can only be treated with chemotherapy and radical surgery. There is a need for biomarkers that will enable early diagnosis and targeted therapy for this type of cancer. Therefore, a systems biology pipeline was applied in order to identify potential biomarkers for cervical cancer, which show significant reports in three molecular aspects: DNA sequence variants, DNA methylation pattern and alterations in mRNA/protein expression levels. CDH1, CDKN2A, RB1 and TP53 genes were selected as putative biomarkers, being involved in metastasis, cell cycle regulation and tumour suppression. Other ten genes (CDH13, FHIT, PTEN, MLH1, TP73, CDKN1A, CACNA2D2, TERT, WIF1, APC) seemed to play a role in cervical cancer, but the lack of studies prevented their inclusion as possible biomarkers. Our results highlight the importance of these genes. However, further studies should be performed to elucidate the impact of DNA sequence variants and/or epigenetic deregulation and altered expression of these genes in cervical carcinogenesis and their potential as biomarkers for cervical cancer diagnosis and prognosis.

Address: Molecular Prospection and Bioinformatics Group (ProspecMol), Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil. Electronic address: [email protected].; Molecular Prospection and Bioinformatics Group (ProspecMol), Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil; Agronomic Institute of Pernambuco (IPA), Av. General San Martin 1371, Bongi, Recife - PE, 50761-000, Brazil.; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil; Biochemistry Department, Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil.; Molecular Prospection and Bioinformatics Group (ProspecMol), Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil; Biochemistry Department, Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil.; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Av. Prof. Moraes Rego s/n, Recife - PE, 50670-901, Brazil; Department of Biological Engineering, University of Minho (UM), Campus de Gualtar, 4710-057 Braga, Portugal.

DOI: 10.1016/j.mrrev.2017.06.002