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 …
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 …
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 …
[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 …
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 …
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 …
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
Introduction TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer
from lack of extensive pedigree exploration. Methods We performed a nation-wide …
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 …
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
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 …
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 …
pathogenic germline TP53 variants, is a rare, variably penetrant, cancer predisposition …