Analysis of the Li-Fraumeni spectrum based on an international germline TP53 variant data set: an international agency for research on cancer TP53 database …
Importance Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated
with a high, lifelong risk of a broad spectrum of cancers that is caused by …
with a high, lifelong risk of a broad spectrum of cancers that is caused by …
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome
that was first described in 1969. In most families, it is caused by germline mutations in the …
that was first described in 1969. In most families, it is caused by germline mutations in the …
Inherited TP53 mutations and the Li–Fraumeni syndrome
T Guha, D Malkin - Cold Spring Harbor …, 2017 - perspectivesinmedicine.cshlp.org
Li–Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder
associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations …
associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations …
High frequency of de novo mutations in Li–Fraumeni syndrome
KD Gonzalez, CH Buzin, KA Noltner, D Gu… - Journal of medical …, 2009 - jmg.bmj.com
Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition
syndrome caused by germline mutations in the TP53 gene. The frequency of germline de …
syndrome caused by germline mutations in the TP53 gene. The frequency of germline de …
Cancer incidence, patterns, and genotype–phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort …
KC de Andrade, PP Khincha, JN Hatton… - The lancet …, 2021 - thelancet.com
Summary Background Li-Fraumeni syndrome, caused primarily by pathogenic or likely
pathogenic germline TP53 variants, is a rare, variably penetrant, cancer predisposition …
pathogenic germline TP53 variants, is a rare, variably penetrant, cancer predisposition …
TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial …
MWG Ruijs, S Verhoef, MA Rookus, R Pruntel… - Journal of medical …, 2010 - jmg.bmj.com
Background Li–Fraumeni syndrome (LFS) is a rare autosomal dominant cancer
predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour …
predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour …
Higher‐than‐expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history
Li–Fraumeni syndrome (LFS) is an autosomal‐dominant cancer predisposition disorder
associated with pathogenic germline variants in TP53, with a high penetrance over an …
associated with pathogenic germline variants in TP53, with a high penetrance over an …
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li–Fraumeni syndrome
JM Birch, V Blair, AM Kelsey, DG Evans, M Harris… - Oncogene, 1998 - nature.com
Abstract The Li–Fraumeni cancer predisposition syndrome is associated with germline TP53
mutations in the majority of families. We have investigated cancer incidence in 34 Li …
mutations in the majority of families. We have investigated cancer incidence in 34 Li …
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li–Fraumeni syndrome
A Amadou, MIW Achatz, P Hainaut - Current opinion in oncology, 2018 - journals.lww.com
Germline pathogenic variants in TP53 gene have different consequences according to cell,
tissue, context and age. The occurrence of frequent variants in patients with no criteria …
tissue, context and age. The occurrence of frequent variants in patients with no criteria …
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 …
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …
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