| Description |
A woman's life-time risk of developing breast cancer is 10% by the age of 70 years. There are two categories in which breast cancer can be classified: Sporadic Breast Cancer and Hereditary Breast Cancer. Women with hereditary breast cancer are women who have inherited the BRCAI or BRCA2 gene mutation. These mutations account for 5 to 10% of all breast cancer cases but give women with the mutation an 85% chance of developing breast cancer. Factors associated with the BRCA1 and BRCA2 gene mutations include increasing number of relatives diagnosed with breast or ovarian cancer and younger age at diagnosis in the woman and/or her relatives. Age at menarche, and age at birth of first child are not linked to the gene mutations. Genetic susceptibility testing is now commercially available. The expansion of knowledge and the introduction of new services raise questions about public understanding and perception of genetic advances. The purpose of this paper is: to review basic information about the risk of breast cancer, to report on breast cancer survivors, to present the perceptions of risk, and to discuss the role of nurses in assessing and managing genetic susceptibility for breast cancer. Specific issues that surround genetic susceptibility testing include the following: the risk of obtaining inaccurate results, the identification of those who are appropriate for testing, the potential of employment and insurance discrimination, the controversy over preventive and surveillance recommendations for those who test positive, the implications for childbearing, and the psychological responses to genetic susceptibility testing. Following a review of the literature on hereditary breast cancer, specific issues related to genetic susceptibility testing were explored through an interview with a genetic counselor whose practice focuses on hereditary breast cancer and analysis of data on perceptions of hereditary risk and concerns about hereditary breast cancer obtained from breast cancer survivors. An interview with a genetic counselor confirmed the issues discussed in the literature on hereditary breast and ovarian cancer. The role of genetic counseling and the involvement of nursing in the care of people undergoing genetic susceptibility testing has emerged rapidly and is still under development. The breast cancer survivors (N=176) provided information about perceptions of genetic risk consistent with the literature. Fifty-eight percent overestimated the number of breast cancer cases accounted for by known gene mutations. However, the relationship between their level of concern about female relatives and their genetic risk perception was not as strong as expected. The development of knowledge about genetic susceptibility to cancer has important implications for health care providers and the public. Specific curriculum and clinical practice standards for incorporating knowledge about genetics were proposed in 1998 and need to be disseminated and incorporated in practice protocols. |
