26 Oct 2022

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The genetic causes, the diagnosis and the treatment of breast cancer

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Academic level: College

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A research done by an international group of scientists sought to find out new variants in the cause of breast cancer in women. The genetic causes of breast cancer in women have not been studied conclusively due to many variants that influence the development of the disease. This study involved 550 researchers from different parts of the world who conducted the study across six continents featuring 300 institutions. A total of 275000 women were recruited for the study in which 146000 of them had a positive diagnosis of breast cancer (University of Cambridge, 2017). The study discovered 72 new variants that combine with the influence of the environment to cause the occurrence of breast cancer in women. The variants that predispose women to genetic inheritance of breast cancer have increased to 180 (University of Cambridge, 2017). The major result of the study was the discovery of the genes BRCA1 and BRCA2 that present an increased risk of the breast cancer in women. The investigation also revealed that the hormone estrogen was the key variant in development of breast cancer in 70 percent of the women involved in the study. 

The purpose of the OncoArray Consortium research group was to identify the inheritable variants in women that predispose them to breast cancer. The different variants that increase the risk of a woman to breast cancer are available to one percent of the population. This means that at least 1 percent of the female population have a risk that is three times higher when compared to the risk of the general population in developing breast cancer (University of Cambridge, 2017). One of the conclusions of the research study was that there are two types of breast cancers that occur in women, one carries an estrogen receptor that responds to estrogen to allow for tumor growth. This is called estrogen receptor-positive breast cancer tumor. Estrogen receptor-negative breast cancer do not respond to estrogen hormone for tumor growth. 

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The new research enhances the current progress towards the genetic causes, the diagnosis and the treatment of breast cancer. Identification of the genes BRCA1 and BRCA2 as the major influencing factors towards the development of breast cancer opens the door for opportunities for comprehensive research. It would be possible for researchers to advance on this knowledge and be able to discuss the mechanism and pathophysiology of breast cancer which would be critical in its management. The study also brings to light new information about the nature of genome variations that influence the occurrence of breast cancer in women. Previous research in the field of genetics as a cause of breast cancer sought to establish the relationship between breast cancer and family genetics. This study, however, not only confirms the existence of the relationship but also pinpoints the main variations that are commonly associated with a positive diagnosis of breast cancer. 

This information is important enough to be updated in the textbook because it increases the knowledge capacity of students and healthcare professionals. The research on the specific variants that cause breast cancer in women enables students to understand the role of genetics in causing breast cancer (University of Cambridge, 2017). It is important for learners to understand a person's genetic influence to breast cancer because as health professionals, it will enable them to recognize the high risk in 1percent of women and influence early preventive and treatment measures. Updating the coursework with details from this research study builds the knowledge pool of the students. 

References 

The University of Cambridge. "Major study of the genetics of breast cancer provides clues to mechanisms behind the disease." Science Daily, 23 October 2017. <www.sciencedaily.com/releases/2017/10/171023110509.htm>. 

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StudyBounty. (2023, September 15). The genetic causes, the diagnosis and the treatment of breast cancer.
https://studybounty.com/the-genetic-causes-the-diagnosis-and-the-treatment-of-breast-cancer-essay

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