Genome Sequencing Essay

Breast Cancer is a type of cancer where in the breast cells growth are uncontrolled. To enhance our understanding of breast cancer, knowing how any cancer can develop is crucial. Cancer develops as a result of the alteration of the genes, or abnormal changes in the genes accountable for managing the growth of the cells and maintaining their health. In each nucleus, the genes operates as the “control room.” The cells in our bodies replace themselves through a process called cell growth in which the

An effective breast cancer treatment in some women can be traced to the root of the disease. Some of the most aggressive form of breast cancers are caused by a transmembrane receptor protein known as Human Epidermal Growth Factor Receptor 2 (HER2) which is a member of the HER family of receptor tyrosine kinase. Approximately 20,000 HER2 receptor are normally expressed on surface of healthy breast cell however, in about 25% of breast cancer cells the HER2 protein is overexpressed resulting in tumour cells with as many as over 2 million receptors present on their surface. This cancer is known as HER2 positive (HER2+). The effect of HER2 overexpression is an increase in receptor mediated intracellular signalling causing the cell

Each chromosome is labeled as one of four types: A, C, G and T. Genomic medicine is the study of the sequence of those letters. Small changes in the code can make someone more susceptible to cancer and other diseases. The code letters can also differentiate one type of cancer from another. Understanding the genome can help doctor devise a better treatment regimen for any given patient. Professor Dame Sally Davies of the NHS is recommending that medical facilities rapidly sequence the genome for all patients. The NHS has already sequenced the generic blueprint of more than 31,000 patients. [2]

Luminal A is the subtype in which the breast cancer is ER and/or PR positive, and HER2 negative. Luminal B is the subtype in which the breast cancer is ER and/or PR positive, and either HER2 positive of negative. Basal like is the subtype in which breast cancer is ER and PR negative, while also being HER2 negative. HER2 is the subtype in which the breast cancer is ER and PR negative, while being HER2 positive. This is usually successfully treated with therapies that target the HER2 protein. Depending on the expression of the receptors, different treatments such as radiation, surgery for removal of cancer, chemotherapy, and hormonal therapy can be used.

This personalized approach is carried out using unique genetic and molecular biomarkers or signatures as epigenetic and the microenvironment play an essential role in the final manifestation of the malignant process

Oncogenes were discovered in the 1960s, when it was discovered that some animal cancers such as lymphomas were caused by viruses. Some of these viruses were notable due to the simplicity of their RNA genome. These viruses only had three distinct transcription units, involved in the replication of the virus (coat proteins and reverse transcriptase etc.), and an extra gene. This was an oncogene. When oncogenes are properly functioning they are termed proto-oncogenes (Todd R, 1999). Their normal function is to control cell proliferation. These function in growth signalling pathways, and conversely to tumour suppressing cells are activated through a gain in function rather than a loss of it. This occurs in two ways, by producing more of a product, or producing a subtly different product, as a result of a mutation similar to tumour suppressor genes (Croce, 2008). Oncogenes play a particularly strong role in the development of breast cancers. Often the normal ERBB2 and other related genes are amplified in late stage neuroblastomas and rhabdomyosarcomas. ERBB2 encodes HER2 which is a member of the epidermal growth factor

In vitro: Dacomitinib could reduce the phosphorylation of EGFR, HER2, and HER4 in various sensitive cancer cell lines through a combined G0–G1 arrest and an induction of apoptosis. In addition, dacomitinib inhibited growth in several HER2-amplified lines with resistance to trastuzumab. Moreover, dacomitinib

2011). This score was further validated in the cohort ofpatients involved in the tamoxifen exemestene adjuvant

Breast cancer is a complex and heterogeneous disease caused by both genetic and non-genetic risk factors. These factors include, mutations in breast cancer-associated genes 1 and 2 (BRCA1 and BRCA2) [1]; loss or aberrant expression of the estrogen receptor (ER) [2]; human epidermal growth factor receptor (HER2) overexpression [3] ; lack of ER, progesterone receptor (PR), and epidermal growth factor receptor (EGFR) expression[4] ; high levels of receptor for the insulin-like growth factor receptor 1 (IGF-1R[5]; and expression of microRNA (miRNA) [6]. In addition to genetic alterations (gene amplifications, deletions, point mutations, and chromosome rearrangements), epigenetic changes (methylation and/or acetylation) of the genome play an important role in breast carcinogenesis. For example, methylation of RASSF1A, BRCA1, and estrogen receptor α (ERα) is associated with breast tumorigenesis and metastasis [7]. The inactivation of tumor suppressor proteins that lead to tumor cell growth and survival are another mechanism of breast cancer development [8]. These genes are inactivated by a variety of mechanisms, including chromosomal deletions, intragenic mutations, proteolysis, and loss of epigenetic modifications [9]. The best-characterized tumor suppressor protein is p53. In breast cancer, p53 mutation or downregulation is associated with an adverse prognosis [10]. Other tumor suppressor proteins in breast cancer include PTEN [11], p16[12], the retinoblastoma gene[13], and

This invaluable data can then be compared to patients with similar molecule profiles, often time revealing more opportunities for treatment and care by enabling doctors to peak into the potential future of the patients cancer.

According to the National Cancer Institute (NCI) triple negative breast cancer is subtype of breast cancer that lack estrogen receptors, progesterone receptors or large amounts of HER2/neu proteins. It’s commonly known as ER-negative, PR-negative and HER2/neu-negative breast cancer (1). Due to the aforementioned characteristic of triple negative breast cancer it is insensitive to most of the effective therapies available for breast cancer treatment including HER2-directed therapy such as trastuzumab (2). Chemotherapy is the only systemic treatment for Triple Negative Breast Cancer. Even though standard chemotherapy regimens can be effective for patients in the early stages of triple negative breast cancer, but patients with

Cancer is the uncontrollable division and growth of abnormal cells resulting in formation of an aggressive tumour. In some forms of Breast cancer, the cells proliferate uncontrollably due to over-expression of the protein HER2 (Human Epidermal Growth Factor Receptor 2); a receptor embedded within the membrane of cells, allowing for the transfer of signals outside to inside the cell. Trastuzumab is a monoclonal antibody administered through intravenous infusion, to be taken on its own or in combination with one or more chemotherapy regimens. It reduces risk of the cancer reoccurring or spreading by inhibiting the effects of HER2, and enhancing the body’s immune system.

Mechanism: Herceptin attaches itself to a protein called HER2 that is found on the surface of 20 to 25 percent of breast cancers. HER2 stimulates cell growth and prevents breast cancer cell death. When Herceptin binds to HER2 it can prevent the tumor from growing.

Genetic sequencing has been a ground breaking discovery in the medical field. This process allows a doctor to take a patients DNA and determine what diseases that they are at risk for and what preventative measures they take to help protect the patient from the disease. Some doctors use this process as a last resort to diagnose younger patents when they don’t know what is infecting their patient. The problem that comes with this process is that normally doctors find something in the genetic code that could be life

DNA sequencing may be used to determine the sequence of individual genes, larger genetic regions (clusters of genes), full chromosomes or entire genomes. Sequencing gives the order of individual nucleotides which is present in molecules of DNA or RNA isolated from plants, animals, bacteria, or any other source of genetic information. This information is useful in various fields of biology and other sciences like medicine, forensics, etc.