期刊论文详细信息
Hereditary Cancer in Clinical Practice
The Use of a Diagnostic Database in Clinical Oncogenetics
Gerard TN Burger1  Rolf H Sijmons2 
[1] Department of Pathology, SAZINON Foundation, Bethesda Hospital, Hoogeveen, The Netherlands;Department of Clinical Genetics, Groningen University Hospital, Groningen
关键词: computer-assisted diagnosis;    software;    database;    differential diagnosis;    familial cancer;    hereditary cancer;   
Others  :  1183602
DOI  :  10.1186/1897-4287-1-1-31
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【 摘 要 】

In addition to a relatively small number of well known hereditary cancer syndromes, hundreds of presumed or proven hereditary disorders have been observed to manifest cancer as a characteristic feature or as a possible complication. The recognition of these disorders may be of great importance for the medical management of the families involved. Specialized databases, like the Familial Cancer Database (FaCD, http://www.facd.info webcite), may be helpful in the making of differential diagnoses and offer advantages compared with traditional textbooks and on-line literature searches. Based on our own experience and interviews with the other Dutch family cancer clinics, we expect that in similar clinics, computer-assisted differential diagnosis will be primarily used in helping to decide whether or not cancer patients and families should be referred to family cancer clinics for further study and counseling. FaCD has been developed as a tool for experts. As general practitioners and other health professionals with non-expert knowledge of cancer genetics are under increasing pressure to advise on genetic risks, it should be encouraged that other software is developed to support them in interpreting family histories of cancer.

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【 参考文献 】
  • [1]Lindor NM, Greene MH: The concise handbook of family cancer syndromes. J Natl Cancer Inst 1998, 90(14):1039-71.
  • [2]Eeles RA, Ponder BAJ, Easton DF, Horwich Ae: Genetic predisposition to cancer. 1st edition. London: Chapman & Hall Medical; 1996.
  • [3]Hodgson SV, Maher ER: A practical guide to human cancer genetics. 2nd edition. Cambridge: Cambridge University Press; 1999.
  • [4]Offit K: Clinical cancer genetics. Risk counseling & management. New York: Wiley-Liss; 1998.
  • [5]Ponz de Leon M: Familial and hereditary tumors. Berlin: Springer-Verlag; 1994.
  • [6]Fischer C, Schweigert S, Spreckelsen C, Vogel F: Programs, databases, and expert systems for human geneticists - a survey. Hum Genet 1996, 97(2):129-37.
  • [7]Winter R, Baraitser M: London Dysmorphology Database. Oxford: Oxford University Press; 2001.
  • [8]Bankier A: POSSUM database. Melbourne: The Murdoch Children's Research Institute at the Royal Children's Hospital; 2002.
  • [9]Schinzel A: Human cytogenetics database. Oxford: Oxford University Press; 1994.
  • [10]Sijmons RH, Burger GTN: Familial cancer database: a clinical aide-mémoire. Familial Cancer 2001, 1(1):51-5.
  • [11]Salgado LJ, Lopez-Camelo JS, Castilla EE: EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis. J Med Genet 1990, 27(7):446-50.
  • [12]Pelz J, Arendt V, Kunze J: Computer assisted diagnosis of malformation syndromes: an evaluation of three databases (LDDB, POSSUM, and SYNDROC). Am J Med Genet 1996, 63(1):257-67.
  • [13]Kassirer JP: A report card on computer-assisted diagnosis - the grade C. N Engl J Med 1994, 330(25):1824-5.
  • [14]Emery J, Walton R, Murphy M, Austoker J, Yudkin P, Chapman C, Coulson A, Glasspool D, Fox J: Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. BMJ 2000, 321(7252):28-32.
  • [15]Emery J: Computer support for genetic advice in primary care. Br J Gen Pract 1999, 49(444):572-5.
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