Associated Papers
Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
Jansche R et al.
Cell Death & Disease, 2026
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
Bu R et al.
International Journal of Molecular Sciences, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
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
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 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
Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.
Dolgalev I et al.
Nature Communications, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Ansari-Pour N et al.
Blood, 2023
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.
Lo Piccolo L et al.
Tropical Medicine & International Health : Tm & Ih, 2021
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
Grill S et al.
Archives of Gynecology and Obstetrics, 2021
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.
Seifert M et al.
Cancers, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
Cipriano NM et al.
Breast Cancer (tokyo, Japan), 2019
Next-generation sequencing-based genomic profiling analysis reveals novel mutations for clinical diagnosis in Chinese primary epithelial ovarian cancer patients.
Zhang L et al.
Journal of Ovarian Research, 2019
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.
Teye EK et al.
Oncotarget, 2017
Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.
Moffitt AB et al.
The Journal of Experimental Medicine, 2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Jiang L et al.
Plos Genetics, 2016
Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
Li C et al.
Scientific Reports, 2015
Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis.
Cheng H et al.
Molecular Biology Reports, 2012
DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset.
Berg M et al.
Plos One, 2010
An miR-502-binding site single-nucleotide polymorphism in the 3'-untranslated region of the SET8 gene is associated with early age of breast cancer onset.
Song F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
Gochhait S et al.
Breast Cancer Research : Bcr, 2007
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0