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22 Cards in this Set
- Front
- Back
Genetic Basis of Cancer:
somatic and/or inherited germline mutations in 1)proto-oncogenes 2)tumor suppressor genes 3)DNA mismatch repair genes susceptibility genes (...), environmental factors (...), and viruses |
polymorphisms
teratogens |
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oncogenic = ...
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tumor forming
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Oncogenic Viruses:
Papilloma (HPV) Epstein-Barr (EBV) Hepatitis B (HBV) *study of the genetics and replicative processes of oncogenic retroviruses has revealed some of the key cellular processes involved in ... (formation of cancer |
carcinogenesis
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...: normal genes that play key roles in cell growth and differentiation
...: mutated proto-oncogene that has cancer-forming properties ...: viral gene that has oncogenic properties |
proto-oncogenes
cellular oncogene (c-onc) viral oncogene (v-onc) |
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Functions of Oncogenes:
... v-SIS, HST, INT-2 Growth factor ... ERB-2, KIT, MET ... ras, RAF ... proteins FOS, JUN, ERB-A ... regulators MYC, bcl-2 |
Growth factors
receptors Signal transduction DNA-binding Cell cycle |
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Amplification of Oncogenes:
gene amplification or ... of proto-oncogenes can convert them into ... common examples: MYC, ERB-B2, cyclin D1 in some ... cancers |
over-expression
oncogenes breast |
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which disease is this?
unusual lymphoma of jaw found in children in Africa 90% affected have translocation of the c-MYC oncogene, such that it is amplified/overexpressed by an immunoglobulin promoter region |
Burkitt Lymphoma
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which disease is this?
Philadelphia chromosome found in blood and bone marrow cells involves translocation between chromosomes 9 and 22 = t(9;22) results in a chimeric oncogene with transforming activity in blood cells |
Chronic Myeloid Leukemia
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Tumor Suppressor Genes
first thought of as “anti-...” could suppress malignant phenotype in hybrid cancer cell lines function is to ... inappropriate cell proliferation may become ... or an oncogene may ... the function of tumor-suppressor proteins results in loss of function |
oncogenes
suppress mutated inactivate |
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if you mutate a oncogene, it leads to a ...
if you mutate a tumor suppressor gene, leads to a ... |
gain of function
loss of function |
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What disease is this?
rare, highly malignant childhood cancer of the retina (before age of 5) non-hereditary and hereditary forms mutation in RB1 tumor suppressor gene also may carry risk of developing other malignancies later in life |
Retinoblastoma (RB)
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what is this?
Emerged from Rb studies Hereditary form: due to initial germline mutation in RB1 gene, but also must have an additional somatic mutation to inactivate the second RB1 allele Non-hereditary form: must have two independent inactivating somatic mutations to RB1 locus |
Two-Hit Hypothesis
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which form of the 2 hit hypothesis is this?
-bilaterally, multifocal, younger age. What about this? -unilateral, unifocus, older age of onset |
hereditary form
non-hereditary form |
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Loss of ....
-common occurrance in cancers -explains 2-hit hypothesis -mutant allele will be expressed -loss of normal allele |
heterozygosity
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Tp53:
tumor suppressor gene that encodes p53 ... of the genome” most ... mutated of all the known cancer genes ... syndrome |
“guardian
frequently Li-Fraumeni |
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... silences/inactivates genes
-X-inactivation -genomic imprinting ... can lead to loss of imprinting (LOI) and activation of oncogenes. ... can lead to inactivation of tumor suppressor genes. |
DNA methylation
Hypomethylation Hypermethylation |
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... = shows the link between cancer formation and age. Reason for this is because telomeres get shorter, which leads to chromosome becoming less stable.
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Telomere crisis
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Genetics of Common Cancers (the "big 3")
... cancer 1 in 40 persons in Western societies will develop colon cancer. ... cancer 1 in 12 women in Western societies will develop breast cancer. ... cancer the most common cancer overall after breast cancer, and the most common cancer affecting men |
Colorectal
Breast Prostate |
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which cancer is this?
majority develop from benign adenomas long 5-10 year transition from a small adenomatous polyp to an invasive cancer involves accumulations of genetic alterations (Tp53, RAS, LOH) |
colorectal cancer
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Forms of Colorectal Cancer:
... Adenomatous Polyposis (FAP) -APC gene (adenomatous polyposis coli) ... in Colorectal Cancer -DCC gene (deleted in colorectal cancer) ... Non-Polyposis Colorectal Cancer (HNPCC) -Mut mismatch repair genes |
Familial
Deleted Hereditary |
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which cancer is this?
multiple genetic alterations involved: -erb-B, myc, int-2 oncogenes -BRCA1 and BRCA2 tumor suppressor genes -LOH -EMSY amplification |
breast cancer
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which cancer is this?
Genetic alterations: -LOH -HPC1 and HPC2 (hereditary prostate cancer) -BRCA1 and BRCA2 |
prostate cancer
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