Literature DB >> 15241503

[The genetic revolution-impact on therapy and prevention].

P Propping1, S Aretz.   

Abstract

After the successful sequencing of the human genome the genetic variation between individuals will be worked out in the near future. The genetic differences are the basis for different predispositions to diseases. The next goal is to correlate the host of genetic variants with phenotypes. This endeavor has already been successful for monogenic diseases; however, it will also be possible in genetically complex diseases. If a trait follows a monogenic mode of inheritance, a phenotype results nearly completely from a single mutation; in genetically complex diseases there exists only a statistical relationship. Predictive genetic diagnostics should only be considered after genetic counseling; it makes sense, if there exists efficient prevention or therapy, respectively. This applies e. g. to various familial cancer predispositions. In the future, medical doctors should be able to apply genetic risk figures and to convey them to their patients.

Entities:  

Mesh:

Year:  2004        PMID: 15241503     DOI: 10.1007/s00108-004-1218-3

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  21 in total

1.  Allelic variation in human gene expression.

Authors:  Hai Yan; Weishi Yuan; Victor E Velculescu; Bert Vogelstein; Kenneth W Kinzler
Journal:  Science       Date:  2002-08-16       Impact factor: 47.728

Review 2.  Asthma genetics 2003.

Authors:  Scott T Weiss; Benjamin A Raby
Journal:  Hum Mol Genet       Date:  2004-02-05       Impact factor: 6.150

3.  Susceptibility to leprosy is associated with PARK2 and PACRG.

Authors:  Marcelo T Mira; Alexandre Alcaïs; Van Thuc Nguyen; Milton O Moraes; Celestino Di Flumeri; Hong Thai Vu; Chi Phuong Mai; Thu Huong Nguyen; Ngoc Ba Nguyen; Xuan Khoa Pham; Euzenir N Sarno; Andrea Alter; Alexandre Montpetit; Maria E Moraes; José R Moraes; Carole Doré; Caroline J Gallant; Pierre Lepage; Andrei Verner; Esther Van De Vosse; Thomas J Hudson; Laurent Abel; Erwin Schurr
Journal:  Nature       Date:  2004-01-25       Impact factor: 49.962

4.  A DNA polymorphism discovery resource for research on human genetic variation.

Authors:  F S Collins; L D Brooks; A Chakravarti
Journal:  Genome Res       Date:  1998-12       Impact factor: 9.043

5.  A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.

Authors:  R Sachidanandam; D Weissman; S C Schmidt; J M Kakol; L D Stein; G Marth; S Sherry; J C Mullikin; B J Mortimore; D L Willey; S E Hunt; C G Cole; P C Coggill; C M Rice; Z Ning; J Rogers; D R Bentley; P Y Kwok; E R Mardis; R T Yeh; B Schultz; L Cook; R Davenport; M Dante; L Fulton; L Hillier; R H Waterston; J D McPherson; B Gilman; S Schaffner; W J Van Etten; D Reich; J Higgins; M J Daly; B Blumenstiel; J Baldwin; N Stange-Thomann; M C Zody; L Linton; E S Lander; D Altshuler
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

6.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

Authors:  Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava
Journal:  J Natl Cancer Inst       Date:  2004-02-18       Impact factor: 13.506

Review 7.  Neuregulin 1 and schizophrenia.

Authors:  Hreinn Stefansson; Valgerdur Steinthorsdottir; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Kari Stefansson
Journal:  Ann Med       Date:  2004       Impact factor: 4.709

8.  [Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD].

Authors:  R Schmutzler; B Schlegelberger; A Meindl; W-D Gerber; M Kiechle
Journal:  Zentralbl Gynakol       Date:  2003-12

Review 9.  Linkage of calpain 10 to type 2 diabetes: the biological rationale.

Authors:  Nancy J Cox; M Geoffrey Hayes; Cheryl A Roe; Takafumi Tsuchiya; Graeme I Bell
Journal:  Diabetes       Date:  2004-02       Impact factor: 9.461

10.  The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease.

Authors:  Ann Van Den Bogaert; Johannes Schumacher; Thomas G Schulze; Andreas C Otte; Stephanie Ohlraun; Svetlana Kovalenko; Tim Becker; Jan Freudenberg; Erik G Jönsson; Marja Mattila-Evenden; Göran C Sedvall; Piotr M Czerski; Pawel Kapelski; Joanna Hauser; Wolfgang Maier; Marcella Rietschel; Peter Propping; Markus M Nöthen; Sven Cichon
Journal:  Am J Hum Genet       Date:  2003-11-14       Impact factor: 11.025

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