Publication Date
6-20-2024
Journal
Journal of Clinical Oncology
Abstract
PURPOSE: There exists a barrier between developing and disseminating risk prediction models in clinical settings. We hypothesize that this barrier may be lifted by demonstrating the utility of these models using incomplete data that are collected in real clinical sessions, as compared with the commonly used research cohorts that are meticulously collected.
MATERIALS AND METHODS: Genetic counselors (GCs) collect family history when patients (ie, probands) come to MD Anderson Cancer Center for risk assessment of Li-Fraumeni syndrome, a genetic disorder characterized by deleterious germline mutations in the
RESULTS: For prediction of deleterious
CONCLUSION: We describe a study that fills in the critical gap in knowledge for the utility of risk prediction models. Using a CCB cohort, our previously validated models have demonstrated good performance and outperformed the standard clinical criteria. Our study suggests that better risk counseling may be achieved by GCs using these already-developed mathematical models.
Keywords
Humans, Li-Fraumeni Syndrome, Risk Assessment, Female, Male, Neoplasms, Multiple Primary, Tumor Suppressor Protein p53, Germ-Line Mutation, Genetic Counseling, Adult, Genetic Predisposition to Disease, Genes, p53, Middle Aged
Comments
PMID: 38569124