[HTML][HTML] Genotype–phenotype associations among panel-based TP53+ subjects

HQ Rana, J Clifford, L Hoang, H LaDuca, MH Black… - Genetics in …, 2019 - Elsevier
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 …

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

C Fortuno, T Pesaran, J Mester, J Dolinsky, A Yussuf… - Cancer Genetics, 2020 - Elsevier
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 …

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 …

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

C Fortuno, T Pesaran, J Dolinsky, A Yussuf… - Cancer Genetics, 2019 - Elsevier
TP53 pathogenic germline variation is associated with the multi-cancer predisposition Li–
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

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 …

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 …

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 …

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 …

Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li …

C Fortuno, BJ Feng, C Carroll, G Innella… - JCO Precision …, 2024 - ascopubs.org
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 …

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 …