Hereditary Breast Cancer: The Implications of Genetic Mutations
Hereditary Breast Cancer:
The Implications of Genetic Mutations
Nicole Kownacki
Felician College
Abstract
The purpose of this paper is to examine the role genetics play related to hereditary breast cancer and the options available for risk reduction and prevention. Four published articles, two medical databases and a genetic focused website were examined during the process of this research. Breast cancer is one of the leading causes of death amongst women and heredity is second only to age amongst risk factors. This paper will show how genetic mutations are linked to hereditary breast cancer and the degree of risk they pose on carriers of these mutations. This paper will also examine the process by which affected individuals should be tested for the mutations, who should be tested and options available for cancer prevention and early detection are available. General statistics regarding the mutations, various preventative actions and screening methods will also be disclosed throughout the course of the paper.
Hereditary Breast Cancer:
The Implications of Genetic Mutations
Documented awareness of breast cancer dates back as far as 1600 BC in Egyptian writings. The idea that breast cancer is linked to heredity was first looked at in the late 1800’s. In 1866 a famous French surgeon by the name of Paul Broca came out with the “Broca” report showing that breast cancer can be inherited through families passing from one generation to another (Van der Groep, Van der Wall, & Van Diest, 2011, sec. B). He identified this by constructing a pedigree of his wife’s family after she was diagnosed with breast cancer. Presently, a family history of breast cancer is one of the highest risks for developing breast cancer, second only to age. The purpose of this paper is to examine the role genetics play related to hereditary breast cancer and the options available for risk reduction and prevention. Women with a family history of breast cancer have a significant
The Implications of Genetic Mutations
Nicole Kownacki
Felician College
Abstract
The purpose of this paper is to examine the role genetics play related to hereditary breast cancer and the options available for risk reduction and prevention. Four published articles, two medical databases and a genetic focused website were examined during the process of this research. Breast cancer is one of the leading causes of death amongst women and heredity is second only to age amongst risk factors. This paper will show how genetic mutations are linked to hereditary breast cancer and the degree of risk they pose on carriers of these mutations. This paper will also examine the process by which affected individuals should be tested for the mutations, who should be tested and options available for cancer prevention and early detection are available. General statistics regarding the mutations, various preventative actions and screening methods will also be disclosed throughout the course of the paper.
Hereditary Breast Cancer:
The Implications of Genetic Mutations
Documented awareness of breast cancer dates back as far as 1600 BC in Egyptian writings. The idea that breast cancer is linked to heredity was first looked at in the late 1800’s. In 1866 a famous French surgeon by the name of Paul Broca came out with the “Broca” report showing that breast cancer can be inherited through families passing from one generation to another (Van der Groep, Van der Wall, & Van Diest, 2011, sec. B). He identified this by constructing a pedigree of his wife’s family after she was diagnosed with breast cancer. Presently, a family history of breast cancer is one of the highest risks for developing breast cancer, second only to age. The purpose of this paper is to examine the role genetics play related to hereditary breast cancer and the options available for risk reduction and prevention. Women with a family history of breast cancer have a significant
References: Evans, G. (2011, September 26). Li-Fraumeni syndrome. Up To Date. Retrieved from http://www.uptodate.com/contents/li-fraumeni-syndrome?source=search_result Genetics. (2012, March 20). BreastCancer.org. Retrieved from http://www.breastcancer.org/risk/factors/genetics.jsp Isaacs, C., Fletcher, S. W., & Peshkin, B. N. (2011, February 15). Genetic testing for hereditary breast and ovarian cancer syndrome. Up To Date. Retrieved from http://www.uptodate.com/contents/genetic-testing-for-hereditary-breast-and-ovarian-cancer-syndrome?source=see_link Lynch, H., Silva, E., Snyder, C., & Lynch, J. (2008). Hereditary breast cancer: Part 1. diagnosing hereditary breast cancer syndromes. Hereditary Breast Cancer: Part 1. Diagnosing Hereditary Breast Cancer Syndromes, 14(1), 3-13. Metcalf, K. A., O 'Connor, A., Gershman, S., Armel, S., Finch, A., Demsky, R., ... Narod, S. A. (2007). Development and testing of a decision aid for breast cancer prevention for women with BRCA1 or BRCA2 mutation. Clinical Genetics, 72, 208-217. doi: 10.1111/j.1399-0004.2007.00859.x Silva, E., Gatalica, Z., Snyder, C., Vranic, S., Lynch, J. F., & Lynch, H. T. (2008). Hereditary breast cancer: Part II. management of hereditary breast cancer: Implications of molecular genetics and pathology. Hereditary Breast Cancer: Part II. Management of Hereditary Breast Cancer: Implications of Molecular Genetics and Pathology, 14(1), 14-24. Van der Groep, P., Van der Wall, E., & Van Diest, P. J. (2011, February 19). Pathology of hereditary breast cancer. Cellular Oncology. doi: 10.1007/s13402-011-0010-3