Go to the website http://www.cancer.gov and select 'Cancer Types' on the top menu bar. Scroll down to 'Breast Cancer' and click. Select 'Cases & Prevention' from the options. Click 'More information' and select 'BRCA Mutations: Cancer Risk and Genetic Testing'. Use the information on this page to answer the following questions. With regard to the results of genetic testing for BRCA1 and BRCA2 mutations, what is meant by a 'positive result'?

Key Concepts

BRCA1 and BRCA2 Genes

BRCA1 and BRCA2 are genes that produce proteins responsible for repairing damaged DNA. Mutations in these genes can impair their function, leading to an increased risk of developing certain cancers, particularly breast and ovarian cancer. Understanding these genes is crucial for assessing genetic predisposition to cancer.

Genetic Testing

Genetic testing involves analyzing DNA to identify mutations that may indicate a higher risk of developing specific diseases. In the context of BRCA testing, it helps determine whether an individual carries harmful mutations in the BRCA1 or BRCA2 genes, which can inform medical decisions and preventive measures.

Positive Test Result

A 'positive result' in genetic testing for BRCA mutations indicates that a harmful mutation has been detected in either the BRCA1 or BRCA2 gene. This result suggests a significantly increased risk of developing breast and ovarian cancers, prompting further discussions about risk management and preventive strategies with healthcare providers.