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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)
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Last data update: Apr 18, 2024
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Li-fraumeni Syndrome[original query]>>Original Studies[Product Type]
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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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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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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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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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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Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome.
Sandoval Renata Lazari et al. JCO global oncology 2021 71141-1150
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Paired Tumor-Normal Sequencing Provides Insights into TP53-Related Cancer Spectrum in Li-Fraumeni Patients.
Ceyhan-Birsoy Ozge et al. Journal of the National Cancer Institute 2021
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Genetic Counseling Clinic at AIIMS (New Delhi).
Maitra Dhritiman et al. Indian journal of surgical oncology 2021 12(Suppl 1) 30-33
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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
Grill Sabine et al. Archives of gynecology and obstetrics 2020 Nov
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The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
Escudeiro Carla et al. Familial cancer 2020 Oct
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Radiation therapy and secondary malignancy in Li-Fraumeni syndrome: A hereditary cancer registry study.
Hendrickson Peter G et al. Cancer medicine 2020 Sep
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Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution.
Wang Ying et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020 Sep
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Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Shin Seung Jun et al. Cancer research 2020 80(2) 354-360
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Penetrance Estimates Over Time to First and Second Primary Cancer Diagnosis in Families with Li-Fraumeni Syndrome: A Single Institution Perspective.
Shin Seung Jun et al. Cancer research 2020 80(2) 347-353
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"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome.
Forbes Shepherd Rowan et al. Journal of psychosocial oncology 2020 May 1-20
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The Brazilian TP53 mutation (R337H) and sarcomas.
Volc Sahlua Miguel et al. PloS one 2020 15(1) e0227260
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 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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