GWAS Essay

The tumor board conference I attended was held on Tuesday March 27, 2018 at 7:00 AM, at Northwest Community Hospital. The pathology for the patient I chose was an atypical carcinoid in her lungs.

Genetic screening is done with RFLP analysis. RFLP stands for Restriction Fragment Length Polymorphism. RFLP analysis is used to find an identifiable pattern of fragments (an RFLP) that indicates a genetic marker. The genetic marker is unique and is inherited in all people with a disorder or disease. The RFLP comes from a strand of DNA near a suspected gene location that has been cut with a restriction enzyme into smaller pieces. The pieces of DNA are separated using gel electrophoresis into their distinctive bands. The RFLP is a distinctive pattern of the fragments in the gel. All people with the disorder or disease have the RFLP pattern, it is written in stone or in this case, DNA. DNA bands are studied to determine if a person has a disease, is a carrier, has no prior deposition to the disease, or if they will develop the disease in the future. A detailed human map is being developed by scientists worldwide who are contributing information to the human genome project. The human genome project is an attempt to map out every gene on every chromosome of the human genome. It is going slowly, but growth in knowledge of the genome is growing exponentially every year. Along with the growth, we are accumulating knowledge about more

The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.

Hereditary breast and ovarian cancer is mostly due to a mutation in the Breast cancer susceptibility gene 1(BRCA1) and breast cancer susceptibility gene 2 (BRCA 2) genes and is the most common cause of both forms of breast and ovarian cancers due to hereditary (Weitzel, Blazer, MacDonald, Culver, & Offit, 2011). Although the overall prevalence of the BRCA 1/2 genes is estimated 1 in 400 to 1 in 800 with a higher occurrence in the Ashkenazi Jewish population which is 1 in 40 that have the BRCA genes. According to Weitzel, Blazer, MacDonald, Culver, & Offit (2011), the likelihood of having the BRCA1 or BRCA2 mutation is dependent on one’s personal and/or family history of cancer and can be assessed by using several mutation probability models. After a BRCA1 or BRCA2 gene has been identified in the family, testing of all of at-risk relatives can identify those family members who may also have the BRCA gene and therefore will need to have an increased in following and early intervention when a cancer is diagnosed. There are several options that a person who has been diagnosed with having

The American Cancer Society is one of the most effective ways to learn about the different the various types of cancer. The reason why I chose this organization is because I recently lost a very dear friend to brain cancer. A lot of people do not know the signs and symptoms of cancer and I feel as if this is a great way to inform people about it.

Name the cell-types that define carcinomas, sarcomas, lymphomas, and leukemia’s. Which type is most common?

Hereditary breast and ovarian cancer syndrome (HBOC) and LS (also known as hereditary non-polyposis colorectal cancer (HNPCC) combined likely affect 1 in 250 individuals in the general population, therefore, suggests that primary care providers (PCP) actively cares for a number of these individuals and their family members (Metcalf, Tanner, Buchanan, 2010). Failure to identify and manage individuals with HBOC and LS can result in more harm and increase poor cancer prognosis (Metcalf, Tanner, Buchanan, 2010; Rosato et al., 2013). There are a number of guidelines from prominent organizations including the United States Preventive Services Task Force (USPSTF) and Evaluation of Genomic Applications in Practice and Prevention suggesting that identification of HBOC and LS patients can improve outcomes through enhanced screening and preventive measures (Metcalf, Tanner, Buchanan, 2010). Although not recognized as a universal agreement, the best approaches to high risk individuals with HBOC and Lynch syndrome is a primary care setting, until there is universal agreement with improved identification of LS risk measures (Metcalf, Tanner, Buchanan, 2010). Researchers are exploring recommendations to offer genetic testing for LS to all individuals with diagnosed CRC, with the intent of reducing morbidity and mortality in family members (Bellcross et al., 2011). Currently there are no significant efforts on a national level to facilitate widespread genetic screening to prevent LS adult onset conditions in family members of affected individuals using a public health model (Bellcross et al., 2011). The same concepts and processes used in newborn universal screening are being considered as a model for implementing universal LS screening on a population level (Bellcross et al., 2011). In recognizing universal LS

relatively rare single-gene or chromosomal disorders. But as result of advances in molecular medicine, genetics is now able to provide information about more common and accordingly more costly diseases such as Alzheimer’s disease, cancer, and coronary artery disease. It is the predictive ability of genetic tests for these diseases that makes them especially intriguing in adopting a preventive medicine approach and reducing overall healthcare expenditures.

On Wednesday September 25, we watched a film that changed many people’s lives. The film was about a woman with a goal. A goal that if achieved, it had the ability to impact many families for the better. The woman whom the film is centered toward is Mary-Claire King. Mary, a graduate from UC Berkley, was a cancer researcher and used her background to make significant discoveries. In the film, the cancer that Mary-Claire focuses on is breast cancer. Dr. Mary-Claire wondered why breast cancer seemed to be an inherited trait in some families. Thus, she decided to focus her research on ways the cancer can be inherited. She conducted her research by gathering families with the “inherited” breast cancer gene. Mary-Claire and company was going to look at chromosomes of each individual and then look at specific sections of the chromosomes. Next, they would compare the DNA to those in the family to see if there were any differences or similarities. If there was a

Moreover, common, known and synonymous variants were not included in their final analysis. In our study we will investigate all variant types because our aim is to determine what pathways variants occupy and their interactions with other variants. Eliminating variants may well result in lose of

An overview of mutation detection methods in genetic disorders. Iranian Journal of Pediatrics. 2013;23(4):375-388. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883366/. Accessed February 3, 2014.

In this case, the gene was inherited from the mother to her offspring(s) due to a mutation found

Cancer is a disease that can change the life of a person no matter their age or nationality. Cancer can range from being life threatening to a low risk of death. Cancer cells are cells that do not follow the regular cell growth and division pattern. They go through cell division and produce rapidly. Cancer cells differ from regulating cells in the body because normal cells eventually die. Cancer cells, on the other hand, do not die when they should causing it to be very hard to cure cancer in your body.

In this article, the researchers sought to determine if linkage disequilibrium could be used to map disease-causing genes. This is of practical importance to the human population in that, it could lead to earlier diagnosis and prevention or delay of disease progression. The researchers evaluated work of previous studies and expanded it to a larger section genome samples. This allowed the researchers to obtain a greater depth of knowledge in comparison of multiple regional ethnicities. Linkage disequilibrium is the non-random association of alleles at different loci. Disequilibrium occurs when the frequency of a certain allele is either higher or lower than the expected value given by independent assortment and random association. Linkage disequilibrium

My question being why is cancer becoming more common in firefighters and what are we going to do to help this situation? It’s not a faceless issue...it’s an issue affecting the heroes that put their lives on the line everyday serving and saving others. Now the lives of our firefighters are at risk and they need help.