Genome Sequencing Essay

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Cancer is first and foremost a genetic disease that is caused by mutations in somatic cells and epigenetic aberrations in genes that control a range of cell processes(1). Genome sequencing of many cancer patients has identified that over 500 human genes can lead to the development of a cancer when mutations occur(2). Sequencing the genome of a single cancer patient can provide key information about the tumour and type of genes involved in its development.
Genetic sequencing
Genome sequencing is determining the order of bases that make up a segment of a person’s DNA. The exome is the section of the genome that codes for proteins, approximately 1.5% of the human genome(3). Exome sequencing was initially used to analyse the DNA or cancerous
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Sequencing the exome of the cancer patients’ tumour would identify whether the growth, is originally due to oncogenes or tumour suppressor genes and then the treatment can be tailored to treat the specific needs of the patient.
Treatment
One of the most unusual things about breast cancer is that it has the potential to progress differently in every patient, meaning every patient will react differently to any treatment provided (2). This enforces the need for exome sequencing of the tumour to personalise the treatment given. One gene that can play a role in the development of breast cancer is Human epidermal growth factor receptor 2 (HER-2)(7). If the HER-2 gene is present, then this gene codes for specific proteins which are receptors on breast tissue cells. In a normal example the HER-2 receptors control cell proliferation and apoptosis however, if this oncogene is activated HER-2 gene amplification takes place(8). This leads to the over expression of HER-2 proteins causing HER-2 positive breast cancer, a specific type of cancer with specific treatment(7).
One of the main targeted antibody treatments for breast cancer is trastuzumab. This works against the HER2 positive breast cancers to inhibit the cells ability to receive the signals causing them to grow(7). A diagnostic test is conducted to determine whether the target protein, HER2, is responsive the
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