Li-Fraumeni Syndrome Research Study

Research Highlights

LFS Newsletters

2024 Study Newsletter (PDF, 510 KB)
2022 Study Newsletter (PDF, 1.0 MB)
2018 Study Newsletter (PDF, 1.2 MB)
2016 Study Newsletter (PDF, 255 KB)
2014 Study Newsletter (PDF, 472 KB)

Bibliography

Find all our research publications on PubMed.

Publications

Brockman KJ, Thompson MB, Mirabello L, Savage SA, Malayeri A, Hatton JN, Khincha PP. Characterization of sarcoma topography in Li-Fraumeni syndrome. Front Oncol. 2024 Nov 7;14:1415636. doi: 10.3389/fonc.2024.1415636.

Rising CJ, Forbes Shepherd R, Sleight AG, Boyd P, Wilsnack C, Thompson AS, Huelsnitz CO, Hutson SP, Khincha PP, Werner-Lin A. Relating to the Body Under Chronic Cancer Threat: Implications for Psychosocial Health Among Adolescents and Young Adults with Cancer Predisposition Syndromes. J Adolesc Young Adult Oncol. 2025 Apr;14(2):151-159. doi: 10.1089/jayao.2024.0103. Epub 2024 Sep 27.

de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, Best AF, Savage SA. Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. Lancet Oncol 2021 Dec;22(12):1787-1798. doi: 10.1016/S1470-2045(21)00580-5. Epub 2021 Nov 12.

Frone MN, Stewart DR, Savage SA, Khincha PP. Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. JCO Precis Oncol 2021 Nov 10;5:PO.21.00320. doi: 10.1200/PO.21.00320.

Oba L, Best AF, Mai PL, Achatz MI, Albert PS, Savage SA, Khincha PP. Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome. Fam Cancer 2021 Jun 2. doi: 10.1007/s10689-021-00265-x. Epub ahead of print.

Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP. Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome. Breast Cancer Res Treat 2021 Oct 15. doi: 10.1007/s10549-021-06410-5. Epub ahead of print.