Analysis of the Li-Fraumeni spectrum based on an international germline TP53 variant data set: an international agency for research on cancer TP53 database …

CP Kratz, C Freycon, KN Maxwell, KE Nichols… - JAMA …, 2021 - jamanetwork.com
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 …

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

PL Mai, D Malkin, JE Garber, JD Schiffman, JN Weitzel… - Cancer genetics, 2012 - Elsevier
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 …

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 …

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 …

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 …

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 …

Higher‐than‐expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history

KC de Andrade, L Mirabello, DR Stewart… - Human …, 2017 - Wiley Online Library
Li–Fraumeni syndrome (LFS) is an autosomal‐dominant cancer predisposition disorder
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 …

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 …

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 …