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  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Diseases of the colon & rectum 39 (1996), S. 384-387 
    ISSN: 1530-0358
    Schlagwort(e): Familial adenomatous polyposis ; Colorectal carcinoma ; Desmoid tumors ; Periampullary tumors
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Widespread use of prophylactic colectomy has resulted in a reduction in the incidence of colorectal cancer in familial adenomatous polyposis (FAP) patients. A retrospective chart review of families registered at the Steve Atanas Stavro Familial Gastrointestinal Cancer Registry in Toronto was performed to determine whether the decrease in the number of patients developing colorectal cancer implies that causes of mortality in FAP patients are shifting to that of extracolonic manifestations of FAP. Information was available on 140 deaths within 158 families and among 461 individuals with FAP. When stratified by decade, from the 1930s to the 1990s, the ratio of deaths caused by extracolonic manifestations of FAP compared with deaths caused by colorectal cancer was noted to have risen. Even though most deaths in FAP patients are still from colorectal cancer, it appears that screening policies and prophylactic colectomy have resulted in a reduction in the number of FAP patients who develop colorectal cancer. Thus, in recent decades, a greater percentage of deaths in FAP patients appears to be attributable to extracolonic manifestations of the disease.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1530-0358
    Schlagwort(e): FAP ; APC ; RFLP ; CHRPE ; Presymptomatic diagnosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Predictive carrier testing for the inherited disorder of familial adenomatous polyposis (FAP) can be conducted using DNA markers linked to the FAP locus. The presence of characteristic hypertrophic retinal lesions has been advocated as useful biomarkers for FAP. We have compared molecular linkage and retinal screening techniques by evaluating the presymptomatic carrier risk of 40 at-risk individuals from 15 FAP families. Linkage analysis was informative in all and retinal lesion analysis in 25 cases. For informative at-risk population, predictive diagnosis by both techniques was completely concordant and identified 15 members at “high” and 10 at “low” risk of inheriting FAP. Because of the unique advantages offered by each technique, a strategy integrating both techniques will increase the number of FAP families that can be screened presymptomatically. Identification of individuals at high risk of polyposis will improve their clinical surveillance and further reduce the incidence of colorectal cancer in FAP families.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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