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Familial adenomatous polyposis: Heterogeneity?

American Journal of Human Genetics, 1994, Vol.55(2), pp.412-413 [Peer Reviewed Journal]

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  • Title:
    Familial adenomatous polyposis: Heterogeneity?
  • Author: Burn, J ; Chapman, P
  • Contributor: Burn, J (correspondence author)
  • Found In: American Journal of Human Genetics, 1994, Vol.55(2), pp.412-413 [Peer Reviewed Journal]
  • Subjects: Familial Adenomatous Polyposis ; Colorectal Carcinoma ; Heterogeneity ; Man ; Polyposis Coli ; Colorectal Carcinoma ; Familial Adenomatous Polyposis ; Heterogeneity ; Man ; Polyposis Coli
  • Language: English
  • Description: We read with interest the report by Stella et al. of apparent genetic heterogeneity for familial adenomatous polyposis (FAP). While it is quite possible that such heterogeneity may occur rarely, this paper is open to criticism, since at no point does it provide evidence that the two families in question were actually suffering from FAP. The presence of five or more colonic polyps would be grounds for diagnosis of hereditary nonpolyposis colon cancer but would not be taken as diagnostic of FAP, for which the classical surgical diagnostic criterion is the presence of > 100 polyps. A smaller number of polyps could be accepted in secondary cases within a pedigree or in those with obvious extra colonic features such as congenital hypertrophy of the retinal pigment epithelium. No reference is made to this in the paper. Our interpretation of this paper must be that the patients described were suffering from dominant colorectal cancer associated with one of the other genetic...
  • Identifier: ISSN: 0002-9297

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