Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.
García-Ayala FD et al.
International Journal of Molecular Sciences, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Design and Validation of a Custom Next-Generation Sequencing Panel in Pediatric Acute Lymphoblastic Leukemia.
Gil JV et al.
International Journal of Molecular Sciences, 2023
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
Establishment and characterization of novel human primary endometrial cancer cell line (ZJB-ENC1) and its genomic characteristic.
Liu X et al.
Journal of Cancer, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
EBV-negative monomorphic B-cell post-transplant lymphoproliferative disorders are pathologically distinct from EBV-positive cases and frequently contain TP53 mutations.
Courville EL et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016
Mutational landscape of intrahepatic cholangiocarcinoma.
Zou S et al.
Nature Communications, 2014
Genetic and epigenetic changes in lung carcinoma and their clinical implications.
Wen J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2011
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.
Li J et al.
Human Mutation, 2009
A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population.
Gallì P et al.
Bmc Cancer, 2009
BCL6: somatic mutations and expression in early-stage chronic lymphocytic leukemia.
Jantus Lewintre E et al.
Leukemia & Lymphoma, 2009
Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese.
Hishida A et al.
Leukemia & Lymphoma, 2004
Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides.
Soussi T et al.
Human Mutation, 2003
Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer.
Huang XE et al.
Breast Cancer (tokyo, Japan), 2003
p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.
Honda K et al.
British Journal of Cancer, 1998