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 …

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 …

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 …

[HTML][HTML] 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 …

Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis

KC de Andrade, MN Frone… - Human …, 2019 - Wiley Online Library
Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised
questions regarding the prevalence of pathogenic germline TP53 variants. We previously …

[HTML][HTML] Apparently heterozygous TP53 pathogenic variants may be blood limited in patients undergoing hereditary cancer panel testing

JL Mester, SA Jackson, K Postula, A Stettner… - The Journal of Molecular …, 2020 - Elsevier
Heterozygous (HET) TP53 pathogenic variants (PVs) are associated with Li-Fraumeni
syndrome (LFS), a dominantly inherited condition causing high risk for sarcoma, breast, and …

[HTML][HTML] Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

U Stoltze, AB Skytte, H Roed, H Hasle, B Ejlertsen… - PloS one, 2018 - journals.plos.org
Introduction TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer
from lack of extensive pedigree exploration. Methods We performed a nation-wide …

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 …

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

C Fortuno, K Lee, M Olivier, T Pesaran, PL Mai… - Human …, 2021 - Wiley Online Library
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …

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 …