Prädiktive Medizin – Klinische Genetik 2010

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
• 2 Ashley E A, Butte A J, Wheeler M T. et al . Clinical assessment incorporating a personal genome.  Lancet. 2010;  375 1525-1535
• 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
• 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
• 5 Blum H E. [Molecular medicine – personalized medicine. Principles and state-of-the-art].  Dtsch Med Wochenschr. 2005;  130 1568-1572
• 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
• 7 Caskey C T. Using genetic diagnosis to determine individual therapeutic utility.  Annu Rev Med. 2010;  61 1-15
• 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
• 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
• 10 Ciardiello F, Tortora G. EGFR antagonists in cancer treatment.  N Engl J Med. 2008;  358 1160-1174
• 11 Cunningham D, Atkin W, Lenz H J. et al . Colorectal cancer.  Lancet. 2010;  375 1030-1047
• 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
• 13 Dragani T A. Risk of HCC: genetic heterogeneity and complex genetics.  J Hepatol. 2010;  52 252-257
• 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
• 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
• 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
• 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
• 18 Goldstein D B. Common genetic variation and human traits.  N Engl J Med. 2009;  360 1696-1698
• 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
• 20 Herbst R S, Lippman S M. Molecular signatures of lung cancer – toward personalized therapy.  N Engl J Med. 2007;  356 76-78
• 21 Hidalgo M. Pancreatic cancer.  N Engl J Med. 2010;  362 1605-1617
• 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
• 23 Huang E, Cheng S H, Dressman H. et al . Gene expression predictors of breast cancer outcomes.  Lancet. 2003;  361 1590-1596
• 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
• 25 International HapMap Consortium . A haplotype map of the human genome.  Nature. 2005;  437 1299-1320
• 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
• 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
• 28 Kraft P, Hunter D J. Genetic risk prediction – are we there yet?.  N Engl J Med. 2009;  360 1701-1703
• 29 Lander E S, Linton L M, Birren B. et al . Initial sequencing and analysis of the human genome.  Nature. 2001;  409 860-921
• 30 Lee J S, Thorgeirsson S S. Comparative and integrative functional genomics of HCC.  Oncogene. 2006;  25 3801-3809
• 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
• 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
• 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
• 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
• 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
• 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
• 37 Massague J. Sorting out breast-cancer gene signatures.  N Engl J Med. 2007;  356 294-297
• 38 Mayer R J. Targeted therapy for advanced colorectal cancer – more is not always better.  N Engl J Med. 2009;  360 623-625
• 39 Messersmith W A, Ahnen D J. Targeting EGFR in colorectal cancer.  N Engl J Med. 2008;  359 1834-1836
• 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
• 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
• 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
• 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
• 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
• 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
• 46 Rosenzweig A. Scanning the genome for coronary risk.  N Engl J Med. 2007;  357 497-499
• 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
• 48 Samani N J, Tomaszewski M, Schunkert H. The personal genome – the future of personalised medicine?.  Lancet. 2010;  375 1497-1498
• 49 Sotiriou C, Pusztai L. Gene-expression signatures in breast cancer.  N Engl J Med. 2009;  360 790-800
• 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
• 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
• 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
• 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
• 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
• 55 The International HapMap Project.  Nature. 2003;  426 789-796
• 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
• 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
• 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
• 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
• 60 Van Cutsem E. et al . Abstr. LBA4509.  J Clin Oncol. 2009;  27 18s
• 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
• 62 Venter J C, Adams M D, Myers E W. et al . The sequence of the human genome.  Science. 2001;  291 1304-1351
• 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
• 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
• 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
• 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
• 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
• 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