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24 Cards in this Set
- Front
- Back
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15q21 involving FBN1?
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Marfan Syndrome
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17q11 also known as von Recklinghausen disease
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NF type 1
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22q12 involving the merlin protein which normally inhibits schwann cell proliferation
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NF type 2
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Most frequent mendalian disorder?
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familial hypercholesterolemia
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22q11.2 Deletion?
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DiGeorge Syndrome
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47 XXY?
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Klinefelters
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45 X?
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Turners syndrome
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15q12 is for what two syndromes?
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prader willi and angelman (happy puppets)
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what abnormalities do babies with trisomy 13 present with?
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cleft lip, cleft palate
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Her2 oncogene is seen in what cancer?
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breast cancer
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What do Ras oncogenes control?
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increased cyclin D --> decreased RB --> increased G1-->S
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what is another name for the BCR-ABL fusion gene product?
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Philidelphia Chromosome
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what is the growth response gene which is altered in up to 70% of cancers, binds with Max, is ingibited by Mad, and controls cell signaling pathways?
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c-MYC
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activation of which oncogene could cause increased 1/2 life of c-MYC?
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Ras
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what tumor suppressor gene is decreased with Ras activation allowing cells to proceed from G1-->S?
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Rb gene
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DNA damage in cells stimulated the production of this gene product which ultimately leads to DNA repair or apoptosis?
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P53
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what is stimulated by hyperproliferative signals from ras and myc and directly inhibits Myc?
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P14
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Bcl-2?
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pro-survival proteins
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85% of follicular lymphomas have what translocation resulting in what gene fusion product?
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t(14,18) with BLC-ABL resulting in excessive levels of Bcl-2
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BRCA-1 mutation leads to what cancers?
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1. Female breats cancer
2. Ovarian cancer |
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BRCA-2 mutation leads to what cancers?
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1. Female and male breast cancer
2. Ovarian cancer |
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E-cadherin mutation leads to what cancer?
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gastric carcinoma
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P16 or INK4a mutations lead to what cancer?
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malignant melanoma
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what is the most common predisposition cancer syndrome which has been well described?
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hereditary nonpolyposis cancer syndrome (HNPCC)
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