Hereditary Colorectal Cancer: A Commentary

  • Walter F. Bodmer
Conference paper


The human geneticists, unfortunately perhaps and against the advice of the relevant clinicians, have opted for APC as the name for the familial adenomatous polyposis gene because a genetic disease is necessarily familial. However, perhaps FAP can remain the name for the syndrome itself. The uniformity of its distribution worldwide supports its maintenance by mutation-selection balance. Using the frequency of sporadic cases, estimated from complete registers through the frequency of cases with unaffected parents, the mutation rate estimate for the APC gene is from 1:100,000 to 1:125,000 depending on an assumed incidence of 1:10,000 or 1:5,000 and a frequency of sporadic cases of either 40% or 20%. The high mutation rate implies that most families will be new mutants and perhaps suggests the possibility of a large gene. Local drift may give rise to clusters of families in a given area with the same mutation, and this may be the case, for example, for the Mormons and may also explain the apparent association of polyposis with HLA A2 and B44 studied by Terasaki and Lynch and by Julia Bodmer and co-workers (Bodmer et al, 1985).


Colorectal Carcinoma Allele Loss Hereditary Colorectal Cancer Polyposis Patient Sporadic Adenoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Bodmer J, Kennedy L, Brennan J, and Bodmer W. HLA and genetic marker studies in adenomatous polyposis. Br. J. Surg. (1985) Vol 72 (September) Sp32–35CrossRefGoogle Scholar
  2. Bodmer WF (1989a) Immune attack against cancer — a new look. Cancer Magazine, UICC In pressGoogle Scholar
  3. Bodmer WF (1989b) Genetic Analysis of Tumour Suppression. (Eds. Greg Bock and Joan Marsh). Symposium on Genetic analysis of tumour suppression, held at the Ciba Foundation, London, 19–21 July 1988. Symposium 142. John Wiley & Sons. Page Nos.: 242-244Google Scholar
  4. Bodmer WF, Cottrell S, Frischauf A-M, Jones TA, Kerr IB, Murday VA, Smith MEF, Solomon E, Thomas H, Varesco L, Williams S (1989) Genetics of colorectal cancer. Bristol Myers Symposium on Molecular Mechanisms & new Clinical Applications in Malignancies — Toronto (September 1989)Google Scholar
  5. Pignatelli M, Durbin H, Bodmer WF (1990) Carcinoembryonic antigen functions as an accessory adhesion molecule mediating colon. Proc.Natl.Acad.Sci.USA (in press)Google Scholar
  6. Smith MEF, Marsh SGE, Bodmer JG, Gelsthorpe K, Bodmer WF (1989) Loss of HLA-A, B, C allele products and lymphocyte function-associated antigen-3 in colorectal neoplasia. Proc.Natl.Acad.Sci. USA 86, 5557–5561PubMedCrossRefGoogle Scholar

Copyright information

© Springer Japan 1990

Authors and Affiliations

  • Walter F. Bodmer

There are no affiliations available

Personalised recommendations