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APC Genotype Is Not a Prognostic Factor in Familial Adenomatous Polyposis Patients With Colorectal Cancer

  • Original Contributions
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Diseases of the Colon & Rectum

PURPOSE

Several studies have shown that the clinical phenotype of patients with familial adenomatous polyposis is influenced by the position of the associated germline mutation in the APC gene. The aim of this work was to assess whether the site of the APC mutation may also predict the survival of familial adenomatous polyposis patients with a confirmed diagnosis of colorectal cancer.

METHODS

A total of 387 familial adenomatous polyposis patients with colorectal cancer were examined. Of these, 287 (74 percent) belonged to families with an identified mutation, whereas 100 (26 percent) were from families in which no detectable APC mutation had been found by standard screening methods. The subjects were subdivided into four groups, according to the presence and localization of the identified mutation: with mutation before (a), at (b), or beyond codon 1309 (c), and without identified mutation (d).

RESULTS

The cumulative five-year survival estimate of all cases included in the study was 0.56 (95 percent confidence interval, 0.51–0.61). No difference was observed in survival probability among patients from families with mutations before (0.56; 95 percent confidence interval, 0.49–0.63), at (0.58; 95 percent confidence interval, 0.43–0.72), or beyond (0.52; 95 percent confidence interval, 0.31–0.73) codon 1309 or those from families that were mutation negative (0.58; 95 percent confidence interval, 0.48–0.68) (log-rank test, P = 0.9). Survival analysis did not reveal any significant advantage for patients carrying a mutation in a specific region of the APC gene, after adjustment for age, gender, site, and stage.

CONCLUSION

These data do not support the hypothesis that APC mutation may influence the outcome of familial adenomatous polyposis cases affected by colorectal cancer.

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Authors and Affiliations

  1. Department of Predictive and Preventive Medicine, National Cancer Institute, Milan, Italy

    Lucio Bertario M.D. & Paola Sala Ph.D.

  2. Hereditary Colorectal Tumors Registry, National Cancer Institute, Milan, Italy

    Lucio Bertario M.D. & Paola Sala Ph.D.

  3. Epidemiology Unit, Local Health Authority of Milan, Milan, Italy

    Antonio Russo M.D.

  4. Hereditary Cancer Unit, National Cancer Institute, Genoa, Italy

    Liliana Varesco M.D.

  5. Department of Experimental Oncology, National Cancer Institute, Milan, Italy

    Rosella Crucianelli Ph.D., Milo Frattini Ph.D., Marco A. Pierotti Ph.D. & Paolo Radice Ph.D.

  6. Institute of Molecular Oncology, Italian Foundation for Cancer Research, Milan, Italy

    Rosella Crucianelli Ph.D., Marco A. Pierotti Ph.D. & Paolo Radice Ph.D.

  7. Department of Pathology, National Cancer Institute, Milan, Italy

    Milo Frattini Ph.D.

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  1. Lucio Bertario M.D.
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  2. Antonio Russo M.D.
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On behalf of the Hereditary Colorectal Tumors Registry (see Appendix)

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Correspondence to Lucio Bertario M.D..

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Supported in part by grants from the Italian Association and Foundation for Cancer Research (AIRC/FIRC) and the Italian Ministry of Health (grant PF1999).

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Bertario, L., Russo, A., Sala, P. et al. APC Genotype Is Not a Prognostic Factor in Familial Adenomatous Polyposis Patients With Colorectal Cancer. Dis Colon Rectum 47, 1662–1669 (2004). https://doi.org/10.1007/s10350-004-0652-6

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