Associated Papers
Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.
Pinto EM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2026
Radiotherapy in Li-Fraumeni Syndrome: From Biological Concern to Personalized Clinical Decision-Making.
El Mjabber R et al.
Cureus, 2026
Cancer associated to low-penetrance TP53 variants: insights from p.R337H.
Lalli E et al.
Trends in Cancer, 2025
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Achatz MI et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer 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
AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study.
Figueiredo BC et al.
Lancet Regional Health. Americas, 2024
Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Vieira IA et al.
Gene, 2024
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
Pinto EM et al.
Hgg Advances, 2024
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA et al.
Journal of Medical Genetics, 2023
Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.
Dos Santos W et al.
Cancers, 2022
Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
Gerber VKQ et al.
Cancers, 2022
The genotypes and phenotypes of missense mutations in the proline domain of the p53 protein.
Hoyos D et al.
Cell Death and Differentiation, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Paixão D et al.
Frontiers in Oncology, 2022
Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant.
Riechelmann RP et al.
Ecancermedicalscience, 2022
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.
Kratz CP et al.
Jama Oncology, 2021
Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes.
Thariat J et al.
The Lancet. Oncology, 2021
The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.
Jeffers JR et al.
Cancer Research, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
What 20 years of research has taught us about the TP53 p.R337H mutation.
Pinto EM et al.
Cancer, 2020
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM et al.
Science Advances, 2020
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.
Gala MK et al.
Gastroenterology, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014