Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Aug;29(8):531–538. doi: 10.1136/jmg.29.8.531

Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry.

M Ponz de Leon 1, C Scapoli 1, G Zanghieri 1, R Sassatelli 1, C Sacchetti 1, I Barrai 1
PMCID: PMC1016056  PMID: 1518021

Abstract

Classical segregation analysis was conducted on 605 families of probands with colorectal carcinoma ascertained through the Cancer Registry of the Province of Modena in Italy. The families were classified as 28 suspected hereditary non-polyposis colorectal cancer (HNPCC) syndromes and 577 presumed non-HNPCC. In 11 of these, both parents had colorectal carcinoma, in 130 one parent was affected, and in 436 both parents were normal. In the suspected HNPCC families, segregation was compatible with dominant transmission of susceptibility to carcinoma. In families with one parent affected, the segregation frequency was almost exactly equal to the frequency of segregation in families where both parents were normal. The model of dominant transmission of susceptibility through a major gene with greatly reduced penetrance in heterozygotes fitted the data acceptably.

Full text

PDF
531

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bombi J. A. Polyps of the colon in Barcelona, Spain. An autopsy study. Cancer. 1988 Apr 1;61(7):1472–1476. doi: 10.1002/1097-0142(19880401)61:7<1472::aid-cncr2820610734>3.0.co;2-e. [DOI] [PubMed] [Google Scholar]
  2. Burt R. W., Bishop D. T., Cannon L. A., Dowdle M. A., Lee R. G., Skolnick M. H. Dominant inheritance of adenomatous colonic polyps and colorectal cancer. N Engl J Med. 1985 Jun 13;312(24):1540–1544. doi: 10.1056/NEJM198506133122403. [DOI] [PubMed] [Google Scholar]
  3. CHAPMAN I. Adenomatous polypi of large intestine: incidence and distribution. Ann Surg. 1963 Feb;157:223–226. doi: 10.1097/00000658-196302000-00007. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cannon-Albright L. A., Skolnick M. H., Bishop D. T., Lee R. G., Burt R. W. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med. 1988 Sep 1;319(9):533–537. doi: 10.1056/NEJM198809013190902. [DOI] [PubMed] [Google Scholar]
  5. Deschner E. E., Raicht R. F. Kinetic and morphologic alterations in the colon of a patient with multiple polyposis. Cancer. 1981 May 15;47(10):2440–2445. doi: 10.1002/1097-0142(19810515)47:10<2440::aid-cncr2820471022>3.0.co;2-f. [DOI] [PubMed] [Google Scholar]
  6. EDWARDS J. H. The simulation of mendelism. Acta Genet Stat Med. 1960;10:63–70. doi: 10.1159/000151119. [DOI] [PubMed] [Google Scholar]
  7. Farber E. The multistep nature of cancer development. Cancer Res. 1984 Oct;44(10):4217–4223. [PubMed] [Google Scholar]
  8. Fearon E. R., Cho K. R., Nigro J. M., Kern S. E., Simons J. W., Ruppert J. M., Hamilton S. R., Preisinger A. C., Thomas G., Kinzler K. W. Identification of a chromosome 18q gene that is altered in colorectal cancers. Science. 1990 Jan 5;247(4938):49–56. doi: 10.1126/science.2294591. [DOI] [PubMed] [Google Scholar]
  9. Fearon E. R., Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990 Jun 1;61(5):759–767. doi: 10.1016/0092-8674(90)90186-i. [DOI] [PubMed] [Google Scholar]
  10. Fitzgibbons R. J., Jr, Lynch H. T., Stanislav G. V., Watson P. A., Lanspa S. J., Marcus J. N., Smyrk T., Kriegler M. D., Lynch J. F. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg. 1987 Sep;206(3):289–295. doi: 10.1097/00000658-198709000-00007. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Garabrant D. H., Peters J. M., Mack T. M., Bernstein L. Job activity and colon cancer risk. Am J Epidemiol. 1984 Jun;119(6):1005–1014. doi: 10.1093/oxfordjournals.aje.a113805. [DOI] [PubMed] [Google Scholar]
  12. Graham S., Dayal H., Swanson M., Mittelman A., Wilkinson G. Diet in the epidemiology of cancer of the colon and rectum. J Natl Cancer Inst. 1978 Sep;61(3):709–714. [PubMed] [Google Scholar]
  13. Graham S., Marshall J., Haughey B., Mittelman A., Swanson M., Zielezny M., Byers T., Wilkinson G., West D. Dietary epidemiology of cancer of the colon in western New York. Am J Epidemiol. 1988 Sep;128(3):490–503. doi: 10.1093/oxfordjournals.aje.a114997. [DOI] [PubMed] [Google Scholar]
  14. Lipkin M. Biomarkers of increased susceptibility to gastrointestinal cancer: new application to studies of cancer prevention in human subjects. Cancer Res. 1988 Jan 15;48(2):235–245. [PubMed] [Google Scholar]
  15. Lipkin M., Winawer S. J., Sherlock P. Early identification of individuals at increased risk for cancer of the large intestine. Part I: definition of high risk populations. Clin Bull. 1981;11(1):13–21. [PubMed] [Google Scholar]
  16. Lovett E. Family studies in cancer of the colon and rectum. Br J Surg. 1976 Jan;63(1):13–18. doi: 10.1002/bjs.1800630103. [DOI] [PubMed] [Google Scholar]
  17. Lynch H. T., Kimberling W., Albano W. A., Lynch J. F., Biscone K., Schuelke G. S., Sandberg A. A., Lipkin M., Deschner E. E., Mikol Y. B. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource. Cancer. 1985 Aug 15;56(4):934–938. doi: 10.1002/1097-0142(19850815)56:4<934::aid-cncr2820560439>3.0.co;2-i. [DOI] [PubMed] [Google Scholar]
  18. Lynch H. T., Watson P., Kriegler M., Lynch J. F., Lanspa S. J., Marcus J., Smyrk T., Fitzgibbons R. J., Jr, Cristofaro G. Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II). Dis Colon Rectum. 1988 May;31(5):372–377. doi: 10.1007/BF02564888. [DOI] [PubMed] [Google Scholar]
  19. Lynch H. T., Watson P., Lanspa S. J., Marcus J., Smyrk T., Fitzgibbons R. J., Jr, Kriegler M., Lynch J. F. Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). Dis Colon Rectum. 1988 Jun;31(6):439–444. doi: 10.1007/BF02552613. [DOI] [PubMed] [Google Scholar]
  20. Mecklin J. P. Frequency of hereditary colorectal carcinoma. Gastroenterology. 1987 Nov;93(5):1021–1025. doi: 10.1016/0016-5085(87)90565-8. [DOI] [PubMed] [Google Scholar]
  21. Naylor E. W., Lebenthal E. Gardner's syndrome. Recent developments in research and management. Dig Dis Sci. 1980 Dec;25(12):945–959. doi: 10.1007/BF01308046. [DOI] [PubMed] [Google Scholar]
  22. Ponz de Leon M., Antonioli A., Ascari A., Zanghieri G., Sacchetti C. Incidence and familial occurrence of colorectal cancer and polyps in a health-care district of northern Italy. Cancer. 1987 Dec 1;60(11):2848–2859. doi: 10.1002/1097-0142(19871201)60:11<2848::aid-cncr2820601141>3.0.co;2-f. [DOI] [PubMed] [Google Scholar]
  23. Ponz de Leon M., Roncucci L., Di Donato P., Tassi L., Smerieri O., Amorico M. G., Malagoli G., De Maria D., Antonioli A., Chahin N. J. Pattern of epithelial cell proliferation in colorectal mucosa of normal subjects and of patients with adenomatous polyps or cancer of the large bowel. Cancer Res. 1988 Jul 15;48(14):4121–4126. [PubMed] [Google Scholar]
  24. Ponz de Leon M., Sassatelli R., Sacchetti C., Zanghieri G., Scalmati A., Roncucci L. Familial aggregation of tumors in the three-year experience of a population-based colorectal cancer registry. Cancer Res. 1989 Aug 1;49(15):4344–4348. [PubMed] [Google Scholar]
  25. Rozen P., Fireman Z., Figer A., Legum C., Ron E., Lynch H. T. Family history of colorectal cancer as a marker of potential malignancy within a screening program. Cancer. 1987 Jul 15;60(2):248–254. doi: 10.1002/1097-0142(19870715)60:2<248::aid-cncr2820600223>3.0.co;2-g. [DOI] [PubMed] [Google Scholar]
  26. Rozen P., Lynch H. T., Figer A., Rozen S., Fireman Z., Legum C., Katz L., Moy A., Kimberling W., Lynch J. Familial colon cancer in the Tel-Aviv area and the influence of ethnic origin. Cancer. 1987 Nov 1;60(9):2355–2359. doi: 10.1002/1097-0142(19871101)60:9<2355::aid-cncr2820600940>3.0.co;2-r. [DOI] [PubMed] [Google Scholar]
  27. Sellers T. A., Ooi W. L., Elston R. C., Chen V. W., Bailey-Wilson J. E., Rothschild H. Increased familial risk for non-lung cancer among relatives of lung cancer patients. Am J Epidemiol. 1987 Aug;126(2):237–246. doi: 10.1093/aje/126.2.237. [DOI] [PubMed] [Google Scholar]
  28. Terpstra O. T., van Blankenstein M., Dees J., Eilers G. A. Abnormal pattern of cell proliferation in the entire colonic mucosa of patients with colon adenoma or cancer. Gastroenterology. 1987 Mar;92(3):704–708. doi: 10.1016/0016-5085(87)90021-7. [DOI] [PubMed] [Google Scholar]
  29. Vasen H. F., Mecklin J. P., Khan P. M., Lynch H. T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991 May;34(5):424–425. doi: 10.1007/BF02053699. [DOI] [PubMed] [Google Scholar]
  30. Vogelstein B., Fearon E. R., Hamilton S. R., Kern S. E., Preisinger A. C., Leppert M., Nakamura Y., White R., Smits A. M., Bos J. L. Genetic alterations during colorectal-tumor development. N Engl J Med. 1988 Sep 1;319(9):525–532. doi: 10.1056/NEJM198809013190901. [DOI] [PubMed] [Google Scholar]
  31. Vogelstein B., Fearon E. R., Kern S. E., Hamilton S. R., Preisinger A. C., Nakamura Y., White R. Allelotype of colorectal carcinomas. Science. 1989 Apr 14;244(4901):207–211. doi: 10.1126/science.2565047. [DOI] [PubMed] [Google Scholar]
  32. Weisburger J. H., Wynder E. L. Etiology of colorectal cancer with emphasis on mechanism of action and prevention. Important Adv Oncol. 1987:197–220. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES