The Promise and Pitfalls of Genomics-Driven Cancer Medicine

2013 Virtual Mentor  
Mrs. J is a 45-year-old woman with metastatic breast cancer. Her cancer has proved resistant to several standard chemotherapy treatments. Her doctor has become aware of a new clinical trial, which offers whole genome sequencing of the patient's tumor to select treatment based on specific mutations found in the cancer. To properly interpret somatic mutations found in the tumor, the study also requires a sample of germline DNA. Mrs. J agrees to participate in the trial. Several weeks later,
more » ... weeks later, testing reveals a PTEN mutation in her breast cancer that qualifies her for targeted chemotherapy based on this finding. However, germline DNA sequencing incidentally reveals a PSEN1 mutation, which is known to cause a heritable form of early-onset Alzheimer dementia. Mrs. J presents to clinic to find out the results of her testing. With her 21-year-old daughter by her side, she asks, "Doctor, what did my tests show?"
doi:10.1001/virtualmentor.2013.15.8.stas1-1308 pmid:23937784 fatcat:t5re25fnkzc7ngum5iqpexsg6m