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Chronic myelogenous leukemia (CML) involves what gene
BCR-ABL
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What is the CML translocation site
t(9;22)
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What is the result of a BCR-ABL mutation
- Philadelphia chromosome causing excess tyrosine kinase
- Chronic myelogenous leukemia (CML)
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What drug is used to treat CML
Imatinib mesylate (Gleevec)
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Acute pro-myelocytic leukemia is caused by mutation in what genes
PML and RARA (Retinoic acid receptor)
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What translocation takes place with Acute pro-myelocytic leukemia (APML)
t(15;17)
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What is the result of RAR-PML gene fusion
Results in maturation arrest of granulocytes at the pro-myelocytic stage
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Burkitts lymphonma invloves what Genes
c-MYC
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Burkitts lymphoma is a result of what translocation
t(8;14)
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Over expression of the proto oncogene of MYC is a result of what condition
Burkitt lymohoma
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Follicular Lymphoma has what gene involvement
BCL2 producing products that prevent mitochondrial leakage of cytochrome c
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What translocation has taken place with Follicular Lymphoma
t(14;18)
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What is the end result of Follicular lymphoma
Over expression of BCL2 resulting in immortality of B-Lymphocytes
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Ewing Sarcomas involve what genes
FLI1 and EWSR1
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What translocation takes place in a Ewing Sarcoma
t(11;22)
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What is seen in an x-ray, and biopsy of a Ewing sarcoma
A mass on the bone with an onion skin pattern with a biopsy revealing a malignant tumor with a round dark blue nuclei
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What genes are involved in a Mantle cell lymphoma
FLI1 and EWSR1
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What are the the manifestations of a Mantle cell lymphoma
Generalized non-tender lymphadenopathy in a elderly male patient
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What is the resulting effect of a Mantle cell lymphoma gene modification
Amplification of proto-oncogene cyclin D1 promoting the movement of cells from the G phase to the S phase
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Breast cancer has what gene involvement
ERBB2 or HER-2 gene amplification
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What drugs are used for Breast cancer treatment
Trastumuzab (Herceptin)
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What genes are involved in a Neuroblastoma
Amplification of N-MYC
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What is the function of APC gene, and what cancer is it associated with
- Prevents nuclear transcription
- Familial polyposis coli
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What is the function of the TGF-beta gene, and what cancer is it associated with
- Inhibits G1 to S phase
- Pancreatic and Colorectal cancer
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What is the function of the BRCA1 and 2 genes, and what cancer they associated with
- Regulates DNA repair
- Breast cancer and ovarian cancer
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What is the function of the RB gene, and what cancers is it associated with
- Inhibits G1 to S phase
- Retinoblastoma and Osteogenic sarcoma
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What is the function of the PTCH gene, and what cancer is it associated with
- Encodes cell membrane protein
- Gorlin syndrome (Nevoid basal cell), sporadic basal cell carcinoma
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What is the role of E2F in cell cycling
It activates genes essential for progression through the S phase
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What must be mutated for a child to acquire retinoblastoma
Both alleles of the Rb locus must be inactivated
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What is the role of NF-1, and what cancer is it related with
- Regulates signal transduction by inactivating RAS proteins
- Neurofibromatosis type I
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What are the symptoms of Neurofibromatosis type I
Numerous neurofibromas, optic nerve glioma, cafe au lait spots, iris hamartoma
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NF-2 has what role and is found in what cancer
- Binds to actin and CD44
- Neurofibromatosis type II (bilateral schwannoma of acoustic nerve)
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What is the role of the p53 gene
Inhibits transition from the G1 to S phase
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What are some of the cancers related to the p53 gene
- Li-Fraumeni s yndrome
- HPV
- Breast cancer
- brain tumors
- leukemia
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What is the role of the VHL gene, and what cancer is it associated with
- Regulates nuclear transcription
- Von Hippel Lindau syndrome
- Renal cell carcinoma
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What is the role of the PTEN gene, and what cancer is it associated with
- Regulates nuclear transcription
- Endometrial carcinoma
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What is the role of the WT1 gene, and what cancer is it associated with
- Regulates gene transcription
- Wilms tumor
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What is the function of the INK4a/ARF genes, and what cancer are they related to
- Encodes tumor suppressor genes p53 and Rb
- Melanoma, Pancreatic adenocarcinoma
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What is the role of BCL-2 and what cancer is it associated with
- Produce gene products that prevent mitochondrial leakage of cytochrome c
- B Cell Lymphoma
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Xeroderma pigmentosa is an example of what defect
Nucleotide excision repair defect
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What are examples of cancer caused by a defect in Recombination repair
- Bloom syndrome
- ataxia-telangiectasia
- Fanconi anemia
- BRCA
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MSH2 and MLH1 have what role and are found defected in what cancer
- DNA mismatch repair of genes
- Colon carcinoma
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