Pedigree of the patient (indicated by arrow). She, one maternal aunt and one maternal cousin had breast cancer diagnosed at 36, 44 and 41 years old, respectively, as indicated by the half-filled symbols, and her aunt died of the disease. Her cousin underwent lumpectomy followed by chemotherapy, radiotherapy and is presently on tamoxifen. Her mother had breast cancer in both breasts, diagnosed at ages 41 and 42, as indicated by the completely filled symbol. She underwent bilateral mastectomy and hysterectomy followed by chemotherapy and radiotherapy and died of the disease at age 44. A second maternal aunt was diagnosed with colon cancer at age 52 (light half-filled symbol) and breast cancer at age 55 (dark half-filled symbol). Based on this pattern of familial cancer the patient was considered to be at high risk of developing breast cancer and was entered into the low power MRI screening validation and feasibility study. Following her diagnosis, she was confirmed as carrying a Q1200X mutation in the BRCA1 gene.
Latimer et al. BMC Medical Genetics 2005 6:26 doi:10.1186/1471-2350-6-26