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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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LFSPROShiny: An Interactive R/Shiny App for Prediction and Visualization of Cancer Risks in Families With Deleterious Germline TP53 Mutations.
Nam H Nguyen et al. JCO Clin Cancer Inform 2024 8e2300167
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NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Mary B Daly et al. J Natl Compr Canc Netw 2023 21(10) 1000-1010
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LFSPROShiny: an interactive R/Shiny app for prediction and visualization of cancer risks in families with deleterious germline TP53 mutations.
Nam H Nguyen et al. medRxiv 2023
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Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome.
Kaylee A Underkofler et al. Hered Cancer Clin Pract 2023 21(1) 15
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Rates of intervention and cancer detection on initial versus subsequent whole body MRI screening in Li-Fraumeni Syndrome.
Laura At Kagami et al. Cancer Prev Res (Phila) 2023
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Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Vallijah Subasri et al. Cancer Res Commun 2023 3(5) 738-754
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Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis.
Isadora A Frankenthal et al. Lancet regional health. Americas 2023 12100265
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Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Francesca Rebuzzi et al. International journal of molecular sciences 2023 24(3)
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Whole-body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study.
Omran Meis et al. Cancer 2023
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Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review.
Patel Nirali et al. Journal of neurosurgery. Pediatrics 2023 1-10
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How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship?
Werner-Lin Allison et al. Psycho-oncology 2022
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An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Schwartz Alison et al. Frontiers in oncology 2022 12942741
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Presentation, diagnosis, and management of the Li-Fraumeni syndrome.
Ogden John et al. Proceedings (Baylor University. Medical Center) 2022 35(5) 678-679
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Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.
Rocca Valentina et al. Cancers 2022 14(15)
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Ovarian tumors and genetic predisposition.
Štellmachová Júlia et al. Ceska gynekologie 2022 87(3) 211-216
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TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
da Silva Paula Francinete Faustino et al. Biomolecules 2022 12(5)
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Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
Sandoval Renata Lazari et al. Frontiers in oncology 2022 12836937
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Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body.
Werner-Lin Allison et al. Social science & medicine (1982) 2022 301114905
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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero Adela et al. International journal of clinical oncology 2022
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Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
Vietri Maria Teresa et al. Genes 2022 13(2)
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Population-Based Newborn Screening for Germline TP53 Variants: Clinical Benefits, Cost-Effectiveness, and Value of Further Research.
Kunst Natalia et al. Journal of the National Cancer Institute 2022
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Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
Kratz Christian Peter et al. Geburtshilfe und Frauenheilkunde 2022 82(1) 42-49
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Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants.
Schwartz Alison N et al. JCO precision oncology 2022 51677-1686
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Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.
Siraj Abdul Khalid et al. Hereditary cancer in clinical practice 2021 19(1) 49
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Inherited TP53 Variants and Risk of Prostate Cancer.
Maxwell Kara N et al. European urology 2021
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Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.
Frone Megan N et al. JCO precision oncology 2021 5
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Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
de Andrade Kelvin César et al. The Lancet. Oncology 2021
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Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.
Forbes Shepherd Rowan et al. Qualitative health research 2021 10497323211046240
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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 Christian P et al. JAMA oncology 2021
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Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
Kumamoto Tadashi et al. International journal of clinical oncology 2021
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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