Early Cancer Detection in Li–Fraumeni Syndrome with Cell-Free DNA

D Wong, P Luo, LE Oldfield, H Gong, L Brunga… - Cancer Discovery, 2024 - AACR
Abstract People with Li–Fraumeni syndrome (LFS) harbor a germline pathogenic variant in
the TP53 tumor suppressor gene, face a near 100% lifetime risk of cancer, and routinely …

Prevalence of cancer at baseline screening in the National Cancer Institute Li-Fraumeni syndrome cohort

PL Mai, PP Khincha, JT Loud, RM DeCastro… - JAMA …, 2017 - jamanetwork.com
Importance Establishment of an optimal cancer surveillance program is important to reduce
cancer-related morbidity and mortality in individuals with Li-Fraumeni syndrome, a rare …

Cancer screening recommendations for individuals with Li-Fraumeni syndrome

CP Kratz, MI Achatz, L Brugieres, T Frebourg… - Clinical Cancer …, 2017 - AACR
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by
germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor …

Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis

ML Ballinger, A Best, PL Mai, PP Khincha… - JAMA …, 2017 - jamanetwork.com
Importance Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ
cancer predisposition condition, are limited. Whole-body magnetic resonance imaging …

F18-fluorodeoxyglucose–positron emission tomography/computed tomography screening in li-Fraumeni syndrome

S Masciari, AD Van den Abbeele, LR Diller… - Jama, 2008 - jamanetwork.com
Context Individuals with Li-Fraumeni syndrome (LFS) have an inherited cancer
predisposition to a diverse array of malignancies beginning early in life; survivors of one …

Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients

D Paixão, MD Guimarães, KC De Andrade… - Cancer Imaging, 2018 - Springer
Abstract Background Li-Fraumeni syndrome (LFS) is an autosomal dominant disease that is
associated with germline TP53 mutations and it predisposes affected individuals to a high …

Medical guidelines for Li–Fraumeni syndrome 2019, version 1.1

T Kumamoto, F Yamazaki, Y Nakano, C Tamura… - International Journal of …, 2021 - Springer
Li–Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant
inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer …

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

HQ Rana, R Gelman, H LaDuca… - JNCI: Journal of the …, 2018 - academic.oup.com
Abstract Background Li-Fraumeni syndrome (LFS) has traditionally been identified by single-
gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene …

Misdiagnosis of Li-Fraumeni syndrome in a patient with clonal hematopoiesis and a somatic TP53 mutation

RL Mitchell, C Kosche, K Burgess, S Wadhwa… - Journal of the National …, 2018 - jnccn.org
Li-Fraumeni syndrome (LFS) is a rare genetic disorder that confers a high risk of developing
certain malignancies at a young age. It is caused by germline mutations in the TP53 gene …

Li-Fraumeni syndrome and whole-body MRI screening: screening guidelines, imaging features, and impact on patient management

N Consul, B Amini, JJ Ibarra-Rovira… - American Journal of …, 2021 - Am Roentgen Ray Soc
OBJECTIVE. Li-Fraumeni syndrome (LFS) is a rare autosomal-dominant inherited syndrome
containing a germline mutation in the TP53 gene, which predisposes to oncogenesis …