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Introduction

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Introduction on BRCA1 and BRCA2

The availability of genetic tests for mutations in BRCA (BRCA stands for BReast CAncer) genes, which account for 5-10% of cases of breast and ovarian cancer (Feuer EJ et al (1993): The lifetime risk of developing breast cancer. JNCI 85: 892-897), has prompted many women with a personal or family history of breast or ovarian cancer to seek information about genetic testing. After the possibility of genetic risk has been identified from the family history, counseling helps the patient make an informed decision about genetic testing. So far, since Myriad Genetics has offered the tests, over 10,000 women have been tested (Frank TS et al. (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20:1480-1490.).

A number of ethical issues have been identified to arise in considering genetic testing in general, these include: informed consent, discrimination, privacy, and confidentiality. This module has been designed based on a review of the current literature on the ethics and science of genetic testing for BRCA1 and BRCA2. The physician will be able to route himself/herself through an expanded case study focusing on the possible implications of genetic testing.

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