Clinical Characteristics and Cancer Histories Among Breast Cancer Patients With Li-Fraumeni Syndrome From a Single Institution.

INTRODUCTION

Li-Fraumeni syndrome increases the risks of multiple cancers, including early-onset breast cancer (BC). At The University of Texas MD Anderson Cancer Center, we aimed to describe the complete cancer histories of women with BC and LFS.

METHODS

Patients with BC and LFS were identified from a prospective BC database between 2001 and 2024. We described their cancer histories, BC characteristics, and genetic testing patterns. Summary statistics and statistical methods for associations between factors of interest were generated.

RESULTS

Ninety-six women were identified with a history of BC and LFS. Among 96 women, 127 breast tumors were diagnosed, and 29% (28/96) of women developed at least 2 BCs. Individuals had histories of 1-7 total cancers, totaling 226 cancers in the cohort; 56% of individuals (54/96) had at least 1 other cancer besides BC. BC was the first cancer diagnosis in 67% (36/54) of patients. More than half of the women (54%) underwent genetic testing after developing at least 2 cancer diagnoses. Radiation-induced malignancies occurred in 26% of patients who received radiation treatment.

CONCLUSIONS

Genetic testing for LFS often occurred after the diagnosis of multiple primary malignancies; therefore, earlier genetic testing for LFS may reduce patients' cancer burden owing to increased screening and/or prevention. Treatment-related malignancies were high in this population and contribute to the importance of early LFS diagnosis. These observations contribute to the greater understanding of a rare but high-risk cancer syndrome and highlight opportunities for early intervention and prevention that may reduce the cancer burden among women with LFS.