The Li–Fraumeni syndrome: from clinical epidemiology to molecular genetics
LC Strong, WR Williams… - American journal of …, 1992 - academic.oup.com
… A previous report of 24 families (5) had suggested that a high frequency of second malignant
neoplasms occurred in the LiFraumeni syndrome, and confirmation of that association was …
neoplasms occurred in the LiFraumeni syndrome, and confirmation of that association was …
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome
G Winter, R Kirschner-Schwabe, S Groeneveld-Krentz… - Leukemia, 2021 - nature.com
Approximately 10% of cases of childhood cancer arise in the context of a cancer predisposition
syndrome (CPS)[1]. Among the rare CPS, Li–Fraumeni syndrome (LFS, MIM# 151623) is …
syndrome (CPS)[1]. Among the rare CPS, Li–Fraumeni syndrome (LFS, MIM# 151623) is …
Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations
KD Gonzalez, KA Noltner, CH Buzin, D Gu… - Journal of Clinical …, 2009 - ascopubs.org
… Li Fraumeni syndrome (LFS) or Chompret criteria. A simplified prevalence table provides
a concise summary of individual and family characteristics associated with p53 mutations. …
a concise summary of individual and family characteristics associated with p53 mutations. …
Li–Fraumeni syndrome
D Malkin - Adrenocortical Carcinoma: Basic Science and Clinical …, 2010 - Springer
… , they retrospectively evaluated 280 medical charts and 418 … gene is located on the short
arm of human chromosome 17 band 13.1 [14]. Extensive characterization of the TP53 gene …
arm of human chromosome 17 band 13.1 [14]. Extensive characterization of the TP53 gene …
Li–Fraumeni syndrome
H Correa - Journal of pediatric genetics, 2016 - thieme-connect.com
… Clinical Findings The classic clinical characterization of LFS by Li and Fraumeni includes
an initial patient with a sarcoma, a first-degree relative with cancer before the age of 45 years, …
an initial patient with a sarcoma, a first-degree relative with cancer before the age of 45 years, …
[HTML][HTML] Germline TP53 mutation and clinical characteristics of Korean patients with Li-Fraumeni syndrome
KJ Park, HJ Choi, SP Suh, CS Ki… - Annals of laboratory …, 2016 - ncbi.nlm.nih.gov
… characteristics between Caucasian and Korean patients. This is the first report on the mutation
spectrum and clinical characteristics … the mutation features and clinical characteristics, …
spectrum and clinical characteristics … the mutation features and clinical characteristics, …
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni …
LP Shulman - Obstetrics and Gynecology Clinics, 2010 - obgyn.theclinics.com
… The completion of the Human Genome Project provided a virtual dictionary of gene and … of
diseases as well as particular traits and characteristics. One disease state that was likely to be …
diseases as well as particular traits and characteristics. One disease state that was likely to be …
[HTML][HTML] Li-fraumeni syndrome
K Schneider, K Zelley, KE Nichols, J Garber - 2019 - europepmc.org
… Individuals with or suspected of having LFS based on clinical or molecular criteria should
seek a cancer genetics consultation to review the diagnosis and medical management …
seek a cancer genetics consultation to review the diagnosis and medical management …
Li–Fraumeni syndrome heterogeneity
P Gargallo, Y Yáñez, V Segura, A Juan… - Clinical and …, 2020 - Springer
… be responsible for clinical heterogeneity. In this review, recent advances in the understanding
of genetic and epigenetic aspects influencing Li–Fraumeni phenotype are discussed. …
of genetic and epigenetic aspects influencing Li–Fraumeni phenotype are discussed. …
Medical guidelines for Li–Fraumeni syndrome 2019, version 1.1
T Kumamoto, F Yamazaki, Y Nakano, C Tamura… - … Journal of Clinical …, 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-…
inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer-…
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