Validating Risk Prediction Models for Multiple Primaries and Competing Cancer Outcomes in Families With Li-Fraumeni Syndrome Using Clinically Ascertained Data

Authors

Nam H Nguyen
Elissa B Dodd-Eaton
Jessica L Corredor
Jacynda Woodman-Ross
Sierra Green
Angelica M Gutierrez
Banu K Arun
Wenyi Wang

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