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13q; retinoblastoma, osteosarcoma fxn: inhibits G1 to S phase assoc cancers: retinoblastoma, osteogenic sarcoma, breast carcinoma |
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17p most human cancers, Li-Fraumeni syndrome
(osteosarcomas, breast cancers, adrenocortical tumors, leukemias (AD, significantly inc risk of malignancy as children or young adults)) gene product = transcription factor |
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5q; colorectal cancer (familial polyposis) tumor suppressor gene (loss of fxn -> cancer) fxn: prevents nuclear transcxn |
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| 17q; neurofibromatosis type1 |
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| 22q; neurofibromatosis type 2 |
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fxn: non-receptor tyr kinase activity
mutation: t(9;22)
Cancer: CML |
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fxn: receptor synthesis
mutation: amplification
cancer: Breast carcinoma (marks aggressivity) |
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fxn: nuclear transcription
mutation: t(8;14)
cancer: Burkitt's lymphoma |
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fxn: nuclear transcription
mutation: amplification
cancer: neuroblastoma |
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fxn: GTP signal transduction
mutation: point mutation
cancer: leukemia, lung, colon, pancreatic carcinoma |
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fxn: receptor synthesis
mutation: point mutation
cancer: MEN - multiple endocrine neoplasia IIa/IIb syndromes |
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fxn: growth factor synthesis
mutation: overexpression
cancer: osteogenic sarcoma, astrocytoma |
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fxn: prevents nuclear transcription (degrades catenin, an activator of nuclear transcription)
associated cancer: familial polyposis (colorectal carcinoma) |
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fxn: regulates DNA repair associated cancers: breast, ovary, prostate carcinomas 17q, 13q; breast and ovarian cancer |
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fxn: inhibits G1 to S phase
assoc cancers: pancreatic and colorectal carcinomas |
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fxn: inhibits G1 to S phase, repairs DNA, activates BAX gene (initiates apoptosis)
assoc cancers: lung, colon, breast carcinomas
Li-fraumeni syndrome: breast carcinoma, brain tumors, leukemia, sarcomas |
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fxn: regulates nuclear transcription
assoc cancer: Von Hippel Landau syndrome (cerebellar hemangioblastoma, retinal angioma, renal cell carcinoma (bilateral), pheochromocytoma (bilateral)
chr 3 |
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fxn: regulates nuclear transcription
associated cancer: Wilms' tumor
chr 11p |
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fxn: anti-apoptotic genes
mutation: t(14;18)
cancer: B-cell follicular lymphoma |
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tumor suppressor gene mutation 10q23.3 -> Cowden disease/syndrome triad of breast cancer, thyroid cancer, and endometrial cancer; starts with papular mucous membrane lesion ("cobblestone" appearance) |
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