Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 17 of 17 for “"Li-Fraumeni Syndrome"”.
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Modeling Cancer Using Li-Fraumeni Syndrome Patient-Derived Induced Pluripotent Stem Cells
<p>Li-Fraumeni syndrome (LFS) is an autosomal dominant disease caused by germline mutations in the gene <em>TP53</em>, which predispose individuals to a wide range of malignancies, including osteosarcoma and breast cancer. In the previous study, our group developed a novel disease model platform by …
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Identification and Characterization of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome
<p>Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both …
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Evaluation of Current Clinical Criteria For Li-Fraumeni Syndrome In A Diverse Sample of Tp53 Mutation Carriers
<p>Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome caused by heterozyogous germline mutations in the <em>TP53 </em>gene and characterized by an excess of early-onset cancers, high lifetime risk of cancer, and a wide range of tumor types. Recent studies suggesting a benefit …
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Germline Mutation Detection In Next Generation Sequencing Data and Tp53 Mutation Carrier Probability Estimation For Li-Fraumeni Syndrome
… been widely used in genomic analysis, but its application has been compromised by the missing true variants, especially when these variants are rare. We proposed a family-based variant calling method, FamSeq, integrating Mendelian transmission information with <em>de novo</em> mutation and …
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Attitudes and Practices of Genetic Counselors In Providing Predictive Testing to Minors At Risk For Li-Fraumeni Syndrome
<p>Li- Fraumeni Syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome caused by mutations in the <em>TP53</em> gene that predisposes individuals to a wide variety of cancers, including breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, and adrenocortical carcinomas. …
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The Psychosocial Effects of The Li-Fraumeni Education and Early Detection (Lead) Program On Indivdiuals With Li-Fraumeni Syndrome
<p>Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome that leads to an increased risk of multiple cancers. In the past five years new screening protocols have been developed that provide improved screening options for individuals with LFS. However, very little has been published on the …
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Evaluating Cancer Rates, Cancer Types, and Variant Hotspots Between Different Races and Ethnicities in Individuals with Li-Fraumeni Syndrome
<p>Li Fraumeni Syndrome (LFS) is a cancer predisposition syndrome that increases the risk for numerous cancer types in both children and adults. In the general population, incidence rates for various cancer types differ among races and ethnicities. Although a few germline <em>TP53 …
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Attitudes of Parents At Risk of Inheriting Li-Fraumeni Syndrome to wards Predictive Genetic Testing In Their Minor-Aged Children.
Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome which predisposes individuals to cancer beginning in childhood. These risks are spread across a lifetime, from early childhood to adulthood. Mutations in the p53 tumor suppressor gene are known to cause the majority of cases of LFS. The …
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Creg1 And Its Enhancement Of P16ink4a-Induced Senescence
… cellular stresses. Using spontaneously immortalized Li-Fraumeni Syndrome (LFS) fibroblasts, we found that CREG1 (Cellular Repressor of E1A-stimulated Genes1) is one of genes whose expression fit the criteria of senescence-associated genes, decreased expression during immortalization and …
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P53 Dimers Elicit Unique Tumor Suppressive Activities Through An Altered Metabolic Program
… of p53 is not well understood. We have established in vivo models for monomeric and dimeric p53 which model Li-Fraumeni Syndrome (LFS) patients with germline TP53 TD alterations. Detailed studies showed p53 monomers are inactive forms of the protein. Unexpectedly, p53 dimers conferred some …
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The germline- and tissue-specific effects of endogenous point-mutant p53
… and p53R172H/+ mice are mouse models of Li-Fraumeni Syndrome (LFS). They developed allele- specific tumor spectra that were distinct from p53+/- mice and that better reflect the broad spectrum of tumors found in LFS patients. Dominant effects that varied by allele and function were …
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Modeling Renal Anomalies Associated with Li-Fraumeni Patients: A Novel Role for p53 in Kidney Development
<p>Li-Fraumeni syndrome (LFS) is a heritable disorder caused by germline mutations in the <em>TP53 </em>gene that result in an increased risk of cancer. The <em>TP53</em> tumor suppressor gene regulates cell division and prevents the accumulation of cells that may become cancerous. LFS patients are …
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Evaluating The Therapeutic Efficacy of Restoring Wild-Type P53 Activity In P53-Mutant Tumors
… that undermine its transcriptional activity. Clinically, <em>TP53</em> mutations have been shown to be remarkably predictive of refractoriness to treatment, resulting in poor outcome. Consequently, the development of p53 pathway activating agents is rapidly evolving and gaining more attention …
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Pathway Profiling Of Replicative And Induced Senescence
… of telomeres. This natural "clock" serves to limit the number of cell divisions and therefore protects the cell from potentially carcinogenic mutations. However, senescence also occurs in response to external stresses to the cell, which is known as induced senescence. This study compares the …
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Omics Approaches to Uncover Germline and Somatic Variation Underlying Inherited Sarcomagenesis
… account for a disproportionate share of mortality in young adults, and if left untreated, are highly likely to metastasize. However, sarcoma etiology is poorly understood, and having numerous histological subtypes has complicated elucidation. To better understand factors underlying …
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Statistical Methods For Two Problems In Cancer Research: Analysis of Rna-Seq Data From Archival Samples and Characterization of Onset of Multiple Primary Cancers
… on quantitative methodology development and application for two important topics in translational and clinical cancer research.</p> <p>The first topic was motivated by the challenge of applying transcriptome sequencing (RNA-seq) to formalin-fixation and paraffin-embedding (FFPE) tumor samples …
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Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations
… are associated with known cancer predisposition syndromes. However, the contribution may be underestimated due to the failure to detect patients with genetic susceptibility for cancer when relying on known family pattern and anomalies. Growing evidence indicates that patients with genetic …