Download PDF
Dtsch Med Wochenschr 2010; 135(25/26): 1334-1338
DOI: 10.1055/s-0030-1255166
Klinischer Fortschritt | Commentary

© Georg Thieme Verlag KG Stuttgart · New York

Prädiktive Medizin – Klinische Genetik 2010

Predictive medicine – clinical genetics 2010H. E. Blum1
  • 1Abteilung Innere Medizin II, Medizinische Universitätsklinik Freiburg
Further Information

Publication History

Publication Date:
16 June 2010 (online)

Also available at
    Permissions and Reprints

Was ist neu?

  • Molekulare Analysen: Mit Array-Analysen können viele Gene gleichzeitig untersucht werden.

  • Mutationen: Mutationsanalysen bedeuten vor allem bei onkologischen Erkrankungen eine Verbesserung der Therapie.

  • Polymorphismen: Genomweite Assoziations-studien ermöglichen individuelle Risikoabschätzungen für bestimmte Erkrankungen.

  • Signaturanalysen: Suche nach der Funktion, Regulation und Interaktion der Gene und der Genexpression.

Literatur

  • 1 Alizadeh A A, Eisen M B, Davis R E. et al . Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling.  Nature. 2000;  403 503-511
    Google Scholar
  • 2 Ashley E A, Butte A J, Wheeler M T. et al . Clinical assessment incorporating a personal genome.  Lancet. 2010;  375 1525-1535
    Google Scholar
  • 3 Asselah T, Bieche I, Laurendeau I. et al . Liver gene expression signature of mild fibrosis in patients with chronic hepatitis C.  Gastroenterology. 2005;  129 2064-2075
    Google Scholar
  • 4 Bild A H, Yao G, Chang J T. et al . Oncogenic pathway signatures in human cancers as a guide to targeted therapies.  Nature. 2006;  439 353-357
    Google Scholar
  • 5 Blum H E. [Molecular medicine – personalized medicine. Principles and state-of-the-art].  Dtsch Med Wochenschr. 2005;  130 1568-1572
    Google Scholar
  • 6 Boyault S, Rickman D S, de Reynies A. et al . Transcriptome classification of HCC is related to gene alterations and to new therapeutic targets.  Hepatology. 2007;  45 42-52
    Google Scholar
  • 7 Caskey C T. Using genetic diagnosis to determine individual therapeutic utility.  Annu Rev Med. 2010;  61 1-15
    Google Scholar
  • 8 Chang J C, Wooten E C, Tsimelzon A. et al . Gene expression profiling for the prediction of therapeutic response to docetaxel in patients with breast cancer.  Lancet. 2003;  362 362-369
    Google Scholar
  • 9 Chen H Y, Yu S L, Chen C H. et al . A five-gene signature and clinical outcome in non-small-cell lung cancer.  N Engl J Med. 2007;  356 11-20
    Google Scholar
  • 10 Ciardiello F, Tortora G. EGFR antagonists in cancer treatment.  N Engl J Med. 2008;  358 1160-1174
    Google Scholar
  • 11 Cunningham D, Atkin W, Lenz H J. et al . Colorectal cancer.  Lancet. 2010;  375 1030-1047
    Google Scholar
  • 12 Di Nicolantonio F, Martini M, Molinari F. et al . Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer.  J Clin Oncol. 2008;  26 5705-5712
    Google Scholar
  • 13 Dragani T A. Risk of HCC: genetic heterogeneity and complex genetics.  J Hepatol. 2010;  52 252-257
    Google Scholar
  • 14 Dufour J F, Johnson P. Liver cancer: from molecular pathogenesis to new therapies: summary of the EASL single topic conference.  J Hepatol. 2010;  52 296-304
    Google Scholar
  • 15 Dunckley T, Huentelman M J, Craig D W. et al . Whole-genome analysis of sporadic amyotrophic lateral sclerosis.  N Engl J Med. 2007;  357 775-788
    Google Scholar
  • 16 Fallik D, Borrini F, Boige V. et al . Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer.  Cancer Res. 2003;  63 5738-5744
    Google Scholar
  • 17 Fellay J, Thompson A J, Ge D. et al . ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.  Nature. 2010;  464 405-408
    Google Scholar
  • 18 Goldstein D B. Common genetic variation and human traits.  N Engl J Med. 2009;  360 1696-1698
    Google Scholar
  • 19 Hafler D A, Compston A, Sawcer S. et al . Risk alleles for multiple sclerosis identified by a genomewide study.  N Engl J Med. 2007;  357 851-862
    Google Scholar
  • 20 Herbst R S, Lippman S M. Molecular signatures of lung cancer – toward personalized therapy.  N Engl J Med. 2007;  356 76-78
    Google Scholar
  • 21 Hidalgo M. Pancreatic cancer.  N Engl J Med. 2010;  362 1605-1617
    Google Scholar
  • 22 Hood L, Heath J R, Phelps M E, Lin B. Systems biology and new technologies enable predictive and preventative medicine.  Science. 2004;  306 640-643
    Google Scholar
  • 23 Huang E, Cheng S H, Dressman H. et al . Gene expression predictors of breast cancer outcomes.  Lancet. 2003;  361 1590-1596
    Google Scholar
  • 24 Iizuka N, Oka M, Yamada-Okabe H. et al . Oligonucleotide microarray for prediction of early intrahepatic recurrence of hepatocellular carcinoma after curative resection.  Lancet. 2003;  361 923-929
    Google Scholar
  • 25 International HapMap Consortium . A haplotype map of the human genome.  Nature. 2005;  437 1299-1320
    Google Scholar
  • 26 Ji J, Shi J, Budhu A. et al . MicroRNA expression, survival, and response to interferon in liver cancer.  N Engl J Med. 2009;  361 1437-1447
    Google Scholar
  • 27 Karapetis C S, Khambata-Ford S, Jonker D J. et al . K-ras mutations and benefit from cetuximab in advanced colorectal cancer.  N Engl J Med. 2008;  359 1757-1765
    Google Scholar
  • 28 Kraft P, Hunter D J. Genetic risk prediction – are we there yet?.  N Engl J Med. 2009;  360 1701-1703
    Google Scholar
  • 29 Lander E S, Linton L M, Birren B. et al . Initial sequencing and analysis of the human genome.  Nature. 2001;  409 860-921
    Google Scholar
  • 30 Lee J S, Thorgeirsson S S. Comparative and integrative functional genomics of HCC.  Oncogene. 2006;  25 3801-3809
    Google Scholar
  • 31 Lenz G, Wright G, Dave S S. et al . Stromal gene signatures in large-B-cell lymphomas.  N Engl J Med. 2008;  359 2313-2323
    Google Scholar
  • 32 Liu R, Wang X, Chen G Y. et al . The prognostic role of a gene signature from tumorigenic breast-cancer cells.  N Engl J Med. 2007;  356 217-226
    Google Scholar
  • 33 Luo J H, Ren B, Keryanov S. et al . Transcriptomic and genomic analysis of human hepatocellular carcinomas and hepatoblastomas.  Hepatology. 2006;  44 1012-1024
    Google Scholar
  • 34 Manolio T A, Brooks L D, Collins F S. A HapMap harvest of insights into the genetics of common disease.  J Clin Invest. 2008;  118 1590-1605
    Google Scholar
  • 35 Manolio T A, Collins F S. The HapMap and genome-wide association studies in diagnosis and therapy.  Annu Rev Med. 2009;  60 443-456
    Google Scholar
  • 36 Marcolongo M, Young B, Dal Pero F. et al . A seven-gene signature (cirrhosis risk score) predicts liver fibrosis progression in patients with initially mild chronic hepatitis C.  Hepatology. 2009;  50 1038-1044
    Google Scholar
  • 37 Massague J. Sorting out breast-cancer gene signatures.  N Engl J Med. 2007;  356 294-297
    Google Scholar
  • 38 Mayer R J. Targeted therapy for advanced colorectal cancer – more is not always better.  N Engl J Med. 2009;  360 623-625
    Google Scholar
  • 39 Messersmith W A, Ahnen D J. Targeting EGFR in colorectal cancer.  N Engl J Med. 2008;  359 1834-1836
    Google Scholar
  • 40 Mok T S, Wu Y L, Thongprasert S. et al . Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma.  N Engl J Med. 2009;  361 947-957
    Google Scholar
  • 41 Petersen K F, Dufour S, Hariri A. et al . Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease.  N Engl J Med. 2010;  362 1082-1089
    Google Scholar
  • 42 Pham M X, Teuteberg J J, Kfoury A G. et al . Gene-Expression Profiling for Rejection Surveillance after Cardiac Transplantation.  N Engl J Med. 2010;  362 1890-1900
    Google Scholar
  • 43 Pineau P, Volinia S, McJunkin K. et al . miR-221 overexpression contributes to liver tumorigenesis.  Proc Natl Acad Sci U S A. 2010;  107 264-269
    Google Scholar
  • 44 Pritchard K I, Shepherd L E, O’Malley F P. et al . HER2 and responsiveness of breast cancer to adjuvant chemotherapy.  N Engl J Med. 2006;  354 2103-2111
    Google Scholar
  • 45 Rauch A, Kutalik Z, Descombes P. et al . Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.  Gastroenterology. 2010;  138 1338-1345, 1345 e1331 – 1337
    Google Scholar
  • 46 Rosenzweig A. Scanning the genome for coronary risk.  N Engl J Med. 2007;  357 497-499
    Google Scholar
  • 47 Samani N J, Erdmann J, Hall A S. et al . Genomewide association analysis of coronary artery disease.  N Engl J Med. 2007;  357 443-453
    Google Scholar
  • 48 Samani N J, Tomaszewski M, Schunkert H. The personal genome – the future of personalised medicine?.  Lancet. 2010;  375 1497-1498
    Google Scholar
  • 49 Sotiriou C, Pusztai L. Gene-expression signatures in breast cancer.  N Engl J Med. 2009;  360 790-800
    Google Scholar
  • 50 Stefansson H, Rye D B, Hicks A. et al . A genetic risk factor for periodic limb movements in sleep.  N Engl J Med. 2007;  357 639-647
    Google Scholar
  • 51 Steidl C, Lee T, Shah S P. et al . Tumor-associated macrophages and survival in classic Hodgkin’s lymphoma.  N Engl J Med. 2010;  362 875-885
    Google Scholar
  • 52 Suppiah V, Moldovan M, Ahlenstiel G. et al . IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy.  Nat Genet. 2009;  41 1100-1104
    Google Scholar
  • 53 Tanabe K K, Lemoine A, Finkelstein D M. et al . Epidermal growth factor gene functional polymorphism and the risk of hepatocellular carcinoma in patients with cirrhosis.  JAMA. 2008;  299 53-60
    Google Scholar
  • 54 Tanaka Y, Nishida N, Sugiyama M. et al . Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C.  Nat Genet. 2009;  41 1105-1109
    Google Scholar
  • 55 The International HapMap Project.  Nature. 2003;  426 789-796
    Google Scholar
  • 56 Thomas D L, Thio C L, Martin M P. et al . Genetic variation in IL28B and spontaneous clearance of hepatitis C virus.  Nature. 2009;  461 798-801
    Google Scholar
  • 57 Thorgeirsson S S, Lee J S, Grisham J W. Molecular prognostication of liver cancer: end of the beginning.  J Hepatol. 2006;  44 798-805
    Google Scholar
  • 58 Tol J, Koopman M, Cats A. et al . Chemotherapy, bevacizumab, and cetuximab in metastatic colorectal cancer.  N Engl J Med. 2009;  360 563-572
    Google Scholar
  • 59 Van Cutsem E, Kohne C H, Hitre E. et al . Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer.  N Engl J Med. 2009;  360 1408-1417
    Google Scholar
  • 60 Van Cutsem E. et al . Abstr. LBA4509.  J Clin Oncol. 2009;  27 18s
    Google Scholar
  • 61 van de Vijver M J, He Y D, van’t Veer L J. et al . A gene-expression signature as a predictor of survival in breast cancer.  N Engl J Med. 2002;  347 1999-2009
    Google Scholar
  • 62 Venter J C, Adams M D, Myers E W. et al . The sequence of the human genome.  Science. 2001;  291 1304-1351
    Google Scholar
  • 63 Villanueva A, Minguez B, Forner A, Reig M, Llovet J M. Hepatocellular carcinoma: novel molecular approaches for diagnosis, prognosis, and therapy.  Annu Rev Med. 2010;  61 317-328
    Google Scholar
  • 64 Wacholder S, Hartge P, Prentice R. et al . Performance of common genetic variants in breast-cancer risk models.  N Engl J Med. 2010;  362 986-993
    Google Scholar
  • 65 Wen H, Yoo S S, Kang J. et al . A new NMR-based metabolomics approach for the diagnosis of biliary tract cancer.  J Hepatol. 2010;  52 228-233
    Google Scholar
  • 66 Xiong Y, Fang J H, Yun J P. et al . Effects of microRNA-29 on apoptosis, tumorigenicity, and prognosis of hepatocellular carcinoma.  Hepatology. 2010;  51 836-845
    Google Scholar
  • 67 Yanagisawa K, Shyr Y, Xu B J. et al . Proteomic patterns of tumour subsets in non-small-cell lung cancer.  Lancet. 2003;  362 433-439
    Google Scholar
  • 68 Yao J, Liang L, Huang S. et al . MicroRNA-30d promotes tumor invasion and metastasis by targeting Galphai2 in hepatocellular carcinoma.  Hepatology. 2010;  51 846-856
    Google Scholar

Prof. Dr. med. Dr. h. c. mult. H. E. Blum

Abteilung Innere Medizin II, Medizinische Universitätsklinik

Hugstetter Straße 55

79106 Freiburg

Phone: 0761/270 3404

Fax: 0761/270 3610

Email: hubert.blum@uniklinik-freiburg.de

      >