Assessing and managing breast cancer risk: clinical tools for advising patients

Abstract

Using breast cancer risk assessment tools and going through the process of assessing breast cancer risk can answer many women's questions about what puts them at relatively higher or lower risk. This effectively engages both the clinician and the patient in a discussion about breast cancer, the chances of getting it, and the family's involvement--making the process as important as the actual tools. Examples of selected case histories demonstrate risk assessment using available tools such as the Gail-NCI and the Claus models. For some women, such as those considering tamoxifen or prophylactic surgeries, it may be desirable to prescreen for the inheritance of hereditary mutations and to follow with genetic testing, if indicated. Testing for mutations of breast cancer susceptibility genes or for their diminished expression adds to our ability to assess breast cancer risk at an individual level. The literature contains general interventions that are widely accepted to reduce the severity and the burden of breast cancer, and these are brought together here. The risk assessment process is an important part of a risk reduction program and can help motivate women to engage in prevention activities. This paper uses 2 hypothetical but fact-based and typical case histories to discuss the utility of risk assessment tools for informing women about their options.

Figure 1

Simultaneous Gail-NCI and Claus risk assessment for Lucy (34 years old with 1 first-degree relative with breast cancer). Risk is graphed as calculated by the 2 models for Lucy at 10-year increments. The last vertical bar at each age is the Gail-NCI calculation for a woman at “average” risk

Figure 2

Simultaneous Gail-NCI and Claus risk assessment for Jane (36 years old with 2 first-degree relatives with breast cancer). Risk is plotted after calculation according to the 2 models for Jane at 10-year increments. The last vertical bar at each age is the Gail-NCI calculation for a woman at “average” risk

Figure 3

Outline of DNA damage response showing opportunities for more extensive testing of genetic predispositions to breast cancer. The central role of ATM is shown as well as its connection to BRCA1. Note that p53 appears in 2 places in the outline. The red octagons (“stop signs”) represent checkpoints that slow or stop the cell cycle in the event of DNA damage. The short perpendicular bars above apoptosis and p53 (right) represent inhibition. Proteins for which there are already commercial tests are indicated in yellow. Based on BioCarta Pathways from the Cancer Genome Anatomy Projecthttp://cgap.nci.nih.gov/Pathways/BioCarta_Pathways.