loading...| Preferred Name |
Li-Fraumeni Syndrome |
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| Synonyms |
Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 Organ_System: nervous system PathwayType: signaling Organ: bone Tissue: epithelium Tissue: Cartilage Notes: Headnote: Li-Fraumeni syndrome (LFS), also known as sarcoma, breast, leukemia and adrenal gland (SBLA) syndrome, is an autosomal dominant cancer syndrome caused largely by a germline mutation in the TP53 tumor suppressor gene. LFS results in cancers most often occurring in childhood or young adulthood. Survivors also have an increased risk for developing multiple neoplasms, with particularly high occurrences of breast cancer, soft tissue sarcomas, and brain tumors. At least 70% of individuals with LFS have an identifiable germline mutation in TP53, while few families with cancers characteristic of LFS have mutations in the CHEK2 gene, also a tumor suppressor. Signaling description: The key processes involved in LFS are cell proliferation, block of apoptosis, loss of cell differentiation, and cell cycle arrest. Normally, TP53 stimulates CDKN1A which inhibits the activity of CDK2 and CDK4. CDK2 and CDK4 suppress cell cycle and initiate cell proliferation and differentiation. TP53 promotes BAX and BBC3 resulting in activation of the apoptotic caspase cascade. In addition, TP53 induces CEBPA that is involved in cell proliferation and differentiation. CHEK2 phosphorylates and activates TP53. Outcome effects: Mutations in TP53 and CHEK2 genes lead to redundant proliferation, block of apoptosis, and the disruption of cell cycle and differentiation Mutated genes: Mutated genes are shown in white-out style. CellType: mammary epithelial cell Description: Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer syndrome occuring due to a germline mutation in the TP53 gene. Pathway is built manually using published studies. CellType: chondroblast NodeType: Pathway PMID: 19056046 Tissue: connective tissue Organ_System: integumentary system Organ: breast CellType: fibroblast Pathway_Author: M. Zharkova ORCID:0000-0001-8706-9411 Source: Diseases PMID: 20522432 |
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| ID |
urn:agi-pathway:uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Tissue PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Organ PS:Source |
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| has_exact_synonym |
Organ_System: nervous system PathwayType: signaling Organ: bone Tissue: epithelium Tissue: Cartilage Notes: Headnote: Li-Fraumeni syndrome (LFS), also known as sarcoma, breast, leukemia and adrenal gland (SBLA) syndrome, is an autosomal dominant cancer syndrome caused largely by a germline mutation in the TP53 tumor suppressor gene. LFS results in cancers most often occurring in childhood or young adulthood. Survivors also have an increased risk for developing multiple neoplasms, with particularly high occurrences of breast cancer, soft tissue sarcomas, and brain tumors. At least 70% of individuals with LFS have an identifiable germline mutation in TP53, while few families with cancers characteristic of LFS have mutations in the CHEK2 gene, also a tumor suppressor. Signaling description: The key processes involved in LFS are cell proliferation, block of apoptosis, loss of cell differentiation, and cell cycle arrest. Normally, TP53 stimulates CDKN1A which inhibits the activity of CDK2 and CDK4. CDK2 and CDK4 suppress cell cycle and initiate cell proliferation and differentiation. TP53 promotes BAX and BBC3 resulting in activation of the apoptotic caspase cascade. In addition, TP53 induces CEBPA that is involved in cell proliferation and differentiation. CHEK2 phosphorylates and activates TP53. Outcome effects: Mutations in TP53 and CHEK2 genes lead to redundant proliferation, block of apoptosis, and the disruption of cell cycle and differentiation Mutated genes: Mutated genes are shown in white-out style. CellType: mammary epithelial cell Description: Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer syndrome occuring due to a germline mutation in the TP53 gene. Pathway is built manually using published studies. CellType: chondroblast NodeType: Pathway PMID: 19056046 Tissue: connective tissue Organ_System: integumentary system Organ: breast CellType: fibroblast Pathway_Author: M. Zharkova ORCID:0000-0001-8706-9411 Source: Diseases PMID: 20522432 |
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| id |
urn:agi-pathway:uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 |
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| label |
Li-Fraumeni Syndrome |
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| notation |
uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 |
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| prefLabel |
Li-Fraumeni Syndrome |
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| treeView |
urn:agi-folder:l urn:agi-folder:cartilage urn:agi-folder:nervous_system urn:agi-folder:hereditary_syndromes_associated_with_breast_and/or_ovarian_cancer urn:agi-folder:connective_tissue urn:agi-folder:epithelium urn:agi-folder:integumentary_system |
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| subClassOf |
urn:agi-folder:l urn:agi-folder:cartilage urn:agi-folder:nervous_system urn:agi-folder:hereditary_syndromes_associated_with_breast_and/or_ovarian_cancer urn:agi-folder:connective_tissue urn:agi-folder:epithelium urn:agi-folder:integumentary_system |