Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

T Frebourg, S Bajalica Lagercrantz, C Oliveira… - European Journal of …, 2020 - nature.com
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

Whole-body magnetic resonance imaging (WB-MRI) for cancer screening: Recommendations for use

G Petralia, F Zugni, PE Summers, A Colombo… - La radiologia …, 2021 - Springer
Whole-body magnetic resonance imaging (WB-MRI) is currently recommended for cancer
screening in adult and paediatric subjects with cancer predisposition syndromes …

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 …

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 …

Germline TP53 Testing in Breast Cancers: Why, When and How?

DG Evans, ER Woodward, S Bajalica-Lagercrantz… - Cancers, 2020 - mdpi.com
Simple Summary TP53 variants detected in blood represent a main genetic cause of breast
cancers occurring before 31 years of age. TP53 being included in most of the cancer gene …

Cost‐effectiveness of early cancer surveillance for patients with Li–Fraumeni syndrome

CR Tak, E Biltaji, W Kohlmann, L Maese… - Pediatric blood & …, 2019 - Wiley Online Library
Introduction Patients with germline TP53 pathogenic variants (Li–Fraumeni syndrome LFS)
are at extremely high lifetime risk of developing cancer. Recent data suggest that tumor …

Penetrance of different cancer types in families with Li-Fraumeni syndrome: A validation study using multicenter cohorts

SJ Shin, EB Dodd-Eaton, G Peng, J Bojadzieva… - Cancer research, 2020 - AACR
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an
autosomal-dominant mutation inheritance in the TP53 tumor suppressor gene and a wide …

Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome

LAT Kagami, YK Du, CJ Fernandes, AN Le… - Cancer Prevention …, 2023 - AACR
Abstract Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome with
up to 90% lifetime cancer risk. Cancer screening, including annual whole-body MRI (WB …

Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis

IA Frankenthal, MC Alves, C Tak… - The Lancet Regional …, 2022 - thelancet.com
Summary Background In Brazil, there is a higher prevalence of Li-Fraumeni Syndrome (LFS)
compared to worldwide, due to the founder mutation in the TP53 gene p. R337H. However …

Screening of cancer predisposition syndromes

H Al-Sarhani, RV Gottumukkala, ADS Grasparil… - Pediatric …, 2022 - Springer
Pediatric patients with cancer predisposition syndromes are at increased risk of developing
malignancies compared with their age-matched peers, necessitating regular surveillance …