Mutation That May Lead to Breast Cancer - Assignment Example

Breast Cancer Question one What is the mutation observable in a person with BRCA1 allele? The mutation that occurs makes the chromosomes fail to separate completely. Mutations located on the 17th chromosome are likely to result in cancer. The mutation of this allele is the only factor that is normally associated with or involved in cancer. Women with a mutant allele will develop cancer (Saunders 12). What type of gene is BRCA1 and how can loss-of-function of this gene lead to cancer? BRCA-1 is a gene normally found on the 17th chromosome, a healthy BRCA-1 will always suppresses a tumor growth. Improper functioning or loss of the function of this gene will result to cancer or increase the chances of getting cancer (Halyard 7). What is the rate of mutation in women of Ashkenazi decent? One in every group of a hundred women might be a t the risk of developing this mutation which finally results to breast cancer. How did the researchers determine this number? The researchers observed the mutation 185delAG in 0.9% of Ashkenazim 95% limit in confidence was between 0.4%- 1.8% and there was none in the reference samples. The results led to the determination of the above number (Saunders 14). What type of experimental analysis do you think they performed to obtain their data? Screening for the mutation of pathogens in the ovarian cancer and breast cancer genes such as BRCA1 is the only applicable experimental analysis that would have helped the in the collection of data. How many Americans have some Ashkenazi ancestry? Americans with this type of ancestry are less populated. They are easily notable in the United States of America. Question two What other type of disorder (s) is seen in individuals of Ashkenazi decent? After a genome scan, it was found out that these individuals are also prawn to both bipolar 1 disorder and bipolar 2 disorders. What is the name of the defective enzyme associated with this disorder? Serotonin N-acetyltransferase is the enzyme accountable for the above disorder, increase in these enzyme leads to both bipolar 1 disorder and bipolar 2 disorders. Why do homozygous carriers for the defective gene get this genetic disease? This is because heterozygous are the only people with the ability to be a carrier thus homonozygous lack the ability to be the carriers of certain disorders (Halyard 8). Question three How has genetic testing help to eliminate this disease in the orthodox Jewish community? After a gene test, people are more aware of their fates thus they will tend to protect themselves more. As it is said “it is better to protection than to cure” in the cases of cancer many will prefer to protect themselves from the causative rather than wait so as to treat the defect later (Halyard 8). Ethical and religious issues that were faced by the Jew community when the implementation of genetic testing first occurred Ethically the Jews observed this testing genetic discrimination, there have been a long debate over the issue whereby many Jews think that this is wrong. Religiously Jews thinks that this is wrong genetic testing to them occurs as a mockery to the natural science of God, they believe that no one should tamper with the genetic makeup of a person (Saunders 15). Question four What are some of the benefits and risks associated with genetic testing? Genetic testing has several advantages, these advantages or benefits include, It assists in the identification of unaffected individuals who only carry one copy of gene for a given disease which generally requires two copies so that the disease can be expressed (Halyard 9). It assists in newborn screening, prenatal diagnostic testing and finally Genealogical DNA testing for the genetic genealogy purposes only (Halyard 10). It assists in the pre-implantation during a genetic diagnosis. It assists in the pre-symptomatic testing for the developing Huntington’s disease and adult-onset cancers prediction. It also aids in the estimation of the risk in developing Alzheimer’s disease and the adult-onset cancers (Saunders 16). It assists in forensic testing and the conformational diagnosis of an individual symptomatically. Risks The risk associated is normally associated both emotionally, financially or socially based on the results of the test. People will tend to be angry, anxious, guilty or depressed about their results (Saunders 17). The negative impact associated with genetic testing has lead to the recognition that is increasing. In some instances, genetic testing will lead to tension within family members because the results might reveal a family’s information on another individual related to the one been tested (Halyard 15). Question five Other mutation that may lead to breast cancer Mutation of BRCA2 and other genes might also lead to an inherited cancer of the breast. These genes include, the ATM which repairs damaged DNA, TP53 which aids in the production of a protein known as p53, CHEK2, PTEN, CDH1 and STK11 (Halyard 17). What is the carrier rate for the gene among Ashkenazi Jewish men and women? According to research done by scientists and doctors, the Jewish men tend to be less carries in comparison to women (Saunders 18). It is not easy for find a male carrier of the cancerous traits. The ration of carriers between men to women is roughly 1: 50. So women are the most carriers. Question six Concept of penetrance In genetics, penetrance is the proportion of individuals that carry particular allele or genotype variants that also expresses the phenotype (Halyard 12). In the medical genetics, the mutation causing disease penetrance is the proportion of individuals with a mutation that exhibits clinical symptoms (Saunders 18). Presence of a mutant allele (s) may not necessarily lead to cancer according to penetrance. According to penetrance an individual with the presence of a mutant allele may not necessarily suffer from cancer, the mutated allele might not be the allele carrying the cancerous traits and it is mutation might be of a lesser effect in the occurrence of cancer (Halyard 13). Steps women may take if they know that they are a carrier of one copy or two copies of a diseased allele. They will get screened for cancerous traits more often (Saunders 20). They will check on the symptoms of breast cancer more often (Saunders 20). They will visit the doctor more often and try to avoid anything that may trigger the occurrence of cancer (Saunders 20). Works Cited Halyard, Michele Y. Breast cancer. London: Demos Medical Publishing, 2012. Print. Saunders, Christobel. Breast cancer. New York: Oxford University Press, 2009. Print. Read More