cancer genetics
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Transcript of cancer genetics
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cancer genetics
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(cancer family)Warthin1931GHause1936Lynch1971
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784295113 4818;1940,13;72;=47 48 Lynch
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1)retinoblstoma RB)1/21000-1/100004-
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1RB) 25%)
RB13p14.3RBG1S75%
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RBRBRBrbrbrbRBRB
RBrbrbrb
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2Wilms)WT38%3/4490%20Del(11)(p11)
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AD precancerious lesion AD
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110000090 APC5q211AD familial polyposis coli,FPC
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()AD
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5- 10q2516q22 17p1213%
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1% 713p14 4q316q2611p1316q23
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12q1313% t1214q13;q32) Wilmsdel(11)(p13p14)
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DNAAR
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1BloomBS) ---30
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BloomBS)1SCE2 3
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BloomBS) 115q26.1159KD-blm3blmDNA2 AR
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2FanconiFanconi anemiaFA1/350000DNA
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3ART100FADNA:14q12inv(7)
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4 xeroderma pigmentosumXPDNA
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T
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1ADTB,ADA) 20q12-q13.1
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2AIDS)532AIDS
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AHHAHH()()-S-GSTAHHGST40
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1914Boveri12
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-stem line)modal) (side line)
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1. 46XXXY+8 46XXXY+8+9
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2.
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Ph CML G1971 22q1973 t922 (q34;q11) ABL-BCR1
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Ph
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9q22qC-bcr(130kb)C-abl(280kb)(145kD
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Ph 95%CMLPhPh
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14q+Burkitt75%14q+t(8;14)(q24;q32) 14q+ 8q-
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del(3)(p14p23) PTPG
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1p-6q-
1p-7q-
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oncogene) 1.
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2.1910 RousRSV1970 BaltimoreTeminRNADNA,
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Dresbergv-srcRSVRNA1971 Martin RSVv-oncv-src
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1076Bishop v-src cDNAv-srcC-SRC
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(cellular oncogene,c-onc)DNA
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3. SRCSIS INT2 HSTERBB1 FMS KIT ERBA RAS PIMMYC JUN FOS
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4.
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5.HRAS12GGCGTC
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tumor suppressor gene ---- anti-oncogene
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1.1971 HarrisHela
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2.1RB)1313q14
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1988 RB
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200kb,27mRNA4.7kb928DNAGGAAGTGAP53RB1986RB:
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RBRBE2FG1(R )S RBDNAC-MYCDNA
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2p53p53 17p13.120kb11mRNA2.8kb393p53
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Tp53RBp21p27cyclinECDK2E2FG1S
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1.(nm23H12.2TIMP2)nm23H117q12-q218.5kb5ATIMP217q22-q25
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APC 5q21-q22KRAS2 12p11.1-p12.1DCC 18q21Tp53 17p13.1nm23H1 17q12-q21Nm-23H1