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Breast Cancer Among Women Essay

1807 words - 8 pages

Breast cancer is one of the most common cancers among women in the world today and has one of the highest mortality rates when compared to other cancers (1, 2, 3, 4, 5, 6). This cancer develops when tumors have formed within the cells of the breast and begin to divide uncontrollably while gaining the ability to metastasize (4, 7, 8). When looking at the statistics, one in eight women will develop breast cancer at some point in their life time (2, 4). In 2013, there was an estimated 232,340 new cases while in 2014 there was an estimated 232,670 new cases (4, 8). Breast cancer results when the cells in body have become mutated and begin to transform rapidly without going through any ...view middle of the document...

These mutations all trickle down to the main factor that can make or break a person which is the genes. There are many genes that can play a role in developing breast cancer, but the main gene that is predominantly linked to breast cancer when mutated is BRCA1 and BRCA2 (1,2, 3, 5, 9, 10, 11, 12, 13, 14).
The BRCA 1 gene is found the chromosome 17 on the q arm, where BRCA 2 is found on chromosome 13 on the q arm (1, 2, 11). BRCA 1 and BRCA 2 are tumor suppressor genes that regulate cell proliferation and keep it off unless a signal tells the gene that cell proliferation needs to occur (2, 5, 11 ,12, 13). These genes also play functions in many other roles by repairing any DNA they may be damaged, inactivates proteins when necessary, and maintains the integrity of the genome (4, 7, 9, 11, 12, 13, 14). BRCA 1 and BRCA 2 also form complexes with other molecules that play role in cell cycle regulation such as p53, BARD 1, myc, and RNA Polymerase II (2, 5, 11, 12, 13). The BRCA1 and BARD 1 form a complex together that repress transcription of mRNA and inactivates proteins when necessary, but when BRCA1 comes in contact with p53, it is not known if they interact directly or whether they are both cell cycle regulators, but if either p53 or BRCA1 become mutated both are linked to breast cancer (1, 2, 3, 5, 6, 7, 13). If BRCA 1 and BRCA 2 become mutated, there are many different ways as to how it can become mutated with at least 53 different types of mutations being recorded (1, 3, 5, 10, 14).
At least 5% of all breast cancers that have developed in patients have been caused by mutations that were inherited and passed down through many generations in a family ( 2, 3, 5, 7, 10, 14). Since these genes are tumor suppressors and aid in maintaining the integrity of the genome, they need two alleles to be mutated in-order for the cancer to develop, but the way that they are mutated can vary in each individual (2, 5, 11, 12, 13, 14). One common way that the BRCA1 and BRCA 2 gene gets mutated is when there is either a frame shift or nonsense mutation causing the gene to become dysfunctional and truncated (2, 5, 13, 14). A frame shift mutation is when there is an insertion or a deletion of a codon that will result in a dysfunctional gene, where a nonsense mutation is when a codon is switched to a stop codon, which also causes a dysfunctional gene (9, 14). If the gene becomes dysfunctional, splice sites may become exposed where either introns and/or exons become visible to splicing and may cause the nonsense mutation or it can also lead to a missense mutation, where it switches codons entirely (2, 9, 14). If BRCA 1 or 2 becomes mutated, it no longer has the ability to regulate cell growth or repair any DNA that may have been damaged in the process (2, 5, 12, 13, 14). There is a higher chance for the DNA to be damaged if BRCA1 and 2 are mutated and can eventually lead to the development of cancer, even if the person is asymptomatic for the cancer (12, 14) In...

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