“Beth,” age 43, Hereditary Cancer Risk Assessment Case
Beth, age 43, has been getting mammograms faithfully for 3 years. Every year she wonders if this is going to be the year she hears the words, “You have cancer.” Beth’s aunt (her father’s sister) died from breast cancer in her 50s. Beth never knew her father’s mother because she died of “female” cancer before Beth was born. Recently, Beth’s father died after a short battle with an aggressive form of prostate cancer. Understandably, Beth is concerned about her risk for cancer. For Beth, we wanted to know if she was at risk due to a hereditary cancer syndrome. We started with hereditary cancer risk assessment and learned that she did not have a mutation in any of the genes that were tested. We ruled out most of the known causes of hereditary cancer, but her family history was still significant. Using clinically validated risk algorithms that factor in her current health status and personal medical history coupled with SNP genetic testing, we estimated that Beth had a lifetime risk of developing breast cancer between 22 and 25% compared to the general population risk of 12.5%. While this did not completely alleviate her concern for developing breast cancer, her risk was estimated to be far lower than she had previously assumed. These results also helped us develop a wellness plan tailored for her risk. Enhanced breast cancer screening would be appropriate- including an annual 3-D mammogram and MRI. She also committed to following healthy lifestyle recommendations. She focuses her diet on fresh vegetable, fruits and lean protein sources. This change, along with a renewed dedication to her exercise regime, has resulted in a healthier weight. She also limits her alcohol intake to an occasional date-night or girls’ night out.