Li-Fraumeni Ontology: A Case Study of an Ontology for Knowledge Discovery in a Cancer Domain

The computer-assisted search for knowledge in the medical field has become increasingly frequent. Scientific progress in subjects such as ontology and artificial intelligence allowed researchers to develop methods for capturing, using and sharing specific knowledge. The Li-Fraumeni Syndrome (LFS) is a syndrome that causes multiple primary tumors in children and young adults. These tumors can be Breast Cancer, Brain Tumors and Sarcomas, among others. This paper presents a case study of a new set of ontologies in the domain of the LFS with the objective of extracting knowledge about patients that fit clinical criteria of one or more of the four LFS clinical criteria: Classic, Birch, Eeles and Chompret.