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Transposable Elements Insertion Polymorphisms Linked To Breast Cancer: A Proof Of Concept
Polimorfismos de inserción de elementos transponibles ligados a cancer de mama: una prueba de concepto
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Transposable Elements Insertion Polymorphisms Linked To Breast Cancer: A Proof Of Concept. (2020). Revista Ingeniería Biomédica, 13(26). https://doi.org/10.24050/19099762.n26.2019.1401
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Human endogenous retroviruses (HERVs) make up approximately 8% of the human genome, particularly overexpressed in some cells and tissues of breast carcinoma which is the most common and second leading cause of cancer death in women worldwide. Recent research shows that the HERV-K family of retroviruses is the most widely expressed family of genes in breast cancer. HERV-K elements 108, 109, 113, and 115 are the most found in this disease and are located at the genomic level on chromosome 6, 7, 8, and 19, respectively. The release of genomic data from patients pathologically identified with this disease has allowed advances in aspects of origin, development, and diagnosis. However, the treatment given to this information is done from biological approaches and with little computational contact (in silico). Thus, the following research at genomic scale is focused on finding new insertion polymorphisms that may be linked to breast cancer, through TRACKPOSON, a software designed for the detection of transposable element insertion polymorphisms (TIPs). This pipeline was used in 3,000 rice genomes, but its functionality was extrapolated to this project using the reference human genome, a database of HERVs and genome sequencing reads of case (breast cancer) and control (disease-free) patients that were obtained using Illumina technology. Finally, the results obtained in silico show TIPs associated with breast cancer with its chromosomal location, so this "bioinformatic mimicry" could offer improvement in the research methods and diagnostic approach of this disease.
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