[HTML][HTML] Genotype–phenotype associations among panel-based TP53+ subjects
Purpose Panel testing has led to the identification of TP53 pathogenic/likely pathogenic
(P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to …
(P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to …
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing
Pathogenic germline variants in the TP53 gene predispose to a wide range of cancers,
known collectively as Li-Fraumeni syndrome (LFS). There has been much research aimed to …
known collectively as Li-Fraumeni syndrome (LFS). There has been much research aimed to …
Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants
AN Schwartz, SR Cahill, SM Stokes, D Castillo… - JCO Precision …, 2021 - ascopubs.org
PURPOSE Multigene panel testing (MGPT) identifies TP53 pathogenic or likely pathogenic
(P/LP) variants in patients with diverse phenotypes, of which only one is classic Li-Fraumeni …
(P/LP) variants in patients with diverse phenotypes, of which only one is classic Li-Fraumeni …
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients
TP53 pathogenic germline variation is associated with the multi-cancer predisposition Li–
Fraumeni syndrome (LFS). Next-generation sequencing and multigene panel testing are …
Fraumeni syndrome (LFS). Next-generation sequencing and multigene panel testing are …
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 …
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
KC de Andrade, NT Strande, J Kim, JS Haley… - Human Genetics and …, 2024 - cell.com
Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-
Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by …
Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by …
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 …
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 …
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li …
PURPOSE Establishing accurate age-related penetrance figures for the broad range of
cancer types that occur in individuals harboring a pathogenic germline variant in the TP53 …
cancer types that occur in individuals harboring a pathogenic germline variant in the TP53 …
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired …
B Coffee, HC Cox, R Bernhisel, S Manley… - Human …, 2020 - Wiley Online Library
Previous analysis of next‐generation sequencing (NGS) hereditary pan‐cancer panel
testing demonstrated that approximately 40% of TP53 pathogenic and likely pathogenic …
testing demonstrated that approximately 40% of TP53 pathogenic and likely pathogenic …