The genetic revolution - Impact on therapy and prevention;Die genetische revolution: Bedeutung für therapie und prävention

Internist

Volumn 45, Issue SUPPL. 1, 2004, Pages

  Propping, P ^a   Aretz, S ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Familial cancer predispositions; Genetic counseling; Genetic medicine; Human genome; Predictive genetic diagnosis

Indexed keywords

FAMILIAL CANCER; GENE MUTATION; GENE SEQUENCE; GENE THERAPY; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; INHERITANCE; PHENOTYPE; REVIEW;

GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETIC TECHNIQUES; HUMANS; NEOPLASMS; PEDIGREE; PHENOTYPE; RISK ASSESSMENT; VARIATION (GENETICS);

EID: 3142666001     PISSN: 00209554     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (28)

1. Aretz S, Propping P (2004) Prävention durch die Humangenetik. In: Hurrelmann K, Klotz T, Haisch J (Hrsg) Prävention und Gesundheitsfö rderung. Hans Huber, Bern (im Druck)
2. Beutler E, Bothwell TH, Charlton RW, Motulsky AG (2001) Hereditary hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3127-3161
3. Black DL (2003) Mechanisms of alternative pre-messenger RNA splicing. Ann Rev Biochem 72: 291-336
4. Cichon S, Freudenberg J, Propping P, Nöthen MM (2002) Variabilität im menschlichen Genom. Dtsch Ärztebl 99: A3091-3101
5. Collins FS, Brooks LD, Chakravarti A (1998) A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8: 1229-1231
6. Cox NJ, Hayes MG, Roe CA, Tsuchiya T, Bell GI (2004) Linkage of calpain 10 to type 2 diabetes: the biological rationale. Diabetes 53 (Suppl): S19-25
7. Hoffrage U, Lindsey S, Hertwig R, Gigerenzer G (2000) Communicating statistical information. Science 290: 2261-2262
8. International HapMap Consortium (2003) The international HapMap project. Nature 426: 789-796
9. International SNP Map Working Group (2001) A map of the human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933
10. Jaenisch R, Bird A (2003) Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet Suppl 33: 245-254
11. Järvinen HJ, Mecklin JP, Sistonen P (1995) Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108: 1405-1411
12. Kuhl CK, Schmutzler RK, Leutner CC et al. (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215: 267-279
13. Lo HS, Wang Z, Hu Y, Yang HH, Gere S, Buetow KH, Lee MP (2003) Allelic variation in gene expression is common in the human genome. Genome Res 13: 1855-1862
14. Mira MT, Alcais A, Nguyen VT et al. (2004) Susceptibility to leprosy is associated with PARK2 and PARCG. Nature 427: 636-640
15. OMIM. Online Mendelian Inheritance in Man.http://www.ncbi.nlm.nih.gov
16. Schmutzler R, Schlegelberger B, Meindl A, Gerber WD, Kiechle M (2003) Beratung, genetische Testung und Prävention von Frauen mit einer familiären Belastung für das Mamma- und Ovarialkarzinom. Zentralbl Gynäkol 125: 494-506
17. Schumacher J, Jamra RA, Freudenberg J et al. (2004) Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder. Mol Psychiatry 9: 203-207
18. Stefansson H, Steinthorsdottir V, Thorgeirsson TE, Gulcher JR, Stefansson K (2004) Neuregulin 1 and schizophrenia. Ann Med 36: 62-71
19. Umar A, Boland CR, Terdiman JP et al. (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96: 261-268
20. st century. Am J Hum Genet 74: 374-381
21. Van Den Bogaert A, Schumacher J, Schulze TG et al. (2003) The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet 73: 1438-1443
22. Weatherall DJ (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2: 245-255
23. , Weiss ST, Raby BA (2004) Asthma genetics 2003. Hum Mol Genet 13 (Suppl): R83-89
24. Went L (1990) Ethical issues policy statement on Huntington's disease molecular genetics predictive test. International Huntington Association. World Federation of Neurology. J Med Genet 27: 34-38
25. Wissenschaftlicher Beirat der Bundesärztekammer (1998) Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Ärztebl 95: A1396-1403
26. Wissenschaftlicher Beirat der Bundesärztekammer (2003) Richtlinien zur prädiktiven genetischen Diagnostik. Dtsch Ärztebl 100: A1297-1305
27. Witt I (1998) APC-Resistenz (Faktor-V-Mutation). Dtsch Ärztebl 95: A2316-2323
28. Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW (2002) Allelic variation in human gene expression. Science 297: 1143