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FACET - European Journal of Cancer Care March 2004

FACET - European Journal of Cancer Care March 2004. Genetics of colorectal cancer Rafi, I. 1. Ascertainment Good family history Use of computers Questionnaire. Slide One. *Click on “View”; “Notes Page” for explanatory notes. slides available at: www.blackwellpublishing.com/journals/ecc.

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FACET - European Journal of Cancer Care March 2004

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  1. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancerRafi, I.1 • Ascertainment • Good family history • Use of computers • Questionnaire Slide One *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  2. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Primary-Secondary Care • Communication between primary care and secondary care is important in the management of families at high genetic risk. • Filter low risk families • CMO report 1996 • GP’s may overestimate risk Slide Two *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  3. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Epidemiology • In England and Wales, colorectal cancer is the second most common cause of cancer death. • Rising incidence • The age-standardised incidence rates for colon cancer are: • 17.1 per 100,000 for males • 13.2 per 100,000 for females • Ethnic variation • Social class influence Slide Three *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  4. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Aetiology • 15-20% of cases of colorectal cancer are accounted for by genetic causes whilst 80-85% of cases of colorectal cancer are sporadic, arising from pre-malignant adenomatous polyps. • Pre-existing adenomas • Several genetic abnormalities and genes involved • Environment-genetic interplay Slide Four *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  5. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Screening • Do relatives of an affected individual with colorectal cancer have a greater lifetime risk compared to normal population? Slide Five *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  6. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Screening/outcomes • Mortality • Type of screening • Evidence base • Targeted v general population Slide Six *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  7. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Genetic Families at Risk • Familial Adenomatous Polyposis (FAP) • Hereditary Non-Polyposis Coli (HNPCC) • Familial Colorectal Cancer (FCC) Slide Seven *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  8. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Familial Adenomatous Poylposis • Germ-line mutations in the APC gene • Undifferentiated growth of adenomas • Extra-colonic manifestations Slide Eight *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  9. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • HNPCC • Mutation in genes essential for DNA mismatch repair • Right sided colonic tumours • Extra colonic cancers such as endometrial, ovarian, bladder and renal tumours Slide Nine *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  10. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Familial • Families have an increased lifetime risk of developing colorectal cancer where there is a first-degree relative with colorectal cancer. • Risk stratification based on: • Number of first degree relatives affected • Early age of cancers Slide Ten *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  11. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Genetic epidemiology • Lovett’s incidence and cancer mortality study elicited family histories of patients admitted to St Mark’s Hospital (London) for treatment for colorectal cancer. • Life tables method • Identifying risks to members of colorectal cancer families Slide Eleven *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  12. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Genetic Studies • Burt (1996) • St John et al (1993) • Utah population data (1994) Slide Twelve *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  13. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Lifetime risk • Houlston et al (1990) estimated the risks to relatives of patients with colorectal cancer using Lovett’s pedigrees of families. • Population risk – 1 in 50 • One relative affected – 1 in 17 • One first degree/one second degree – 1 in 12 • One relative under 45 – 1 in 10 • Two first degree relatives Slide Thirteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  14. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Screening methods (1) • FAP • Sigmoidoscopy (starting in adolescence) • Gastro-duodenoscopy • Gene testing for the APC gene Slide Fourteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  15. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Screening methods (2) • HNPCC • Colonoscopy • ? Pelvic Ultrasound Slide Fifteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  16. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Screening by genetic testing • Genetic counselling • The role of genetic testing in patients with suspected hereditary colorectal cancer is to: • Determine if affected patient is carrier of germ-line mutation of one of the colorectal genes • Allow screening of other family members through genetic testing alone Slide Sixteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  17. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • Conclusion • Evidence that screening affects mortality is sparse • Further research • Need for clear referral criteria Slide Seventeen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  18. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • References • Bodmer WF, Failey CJ, Bodmer J, et al. (1987) Localisation of the gene for familial adenomatous polyposis on chromosome 5. Nature, 328:614-616. • Burt R. (1996) Familial risk and colon cancer. International Journal of Cancer 69:44-46. • Department of Health. (1996) Genetics and Cancer Services Report of a working group for the Chief Medical officer. DOH. • Department of Health. (1995b) Report of the genetics research advisory group (first report of the NHS central research and development committee on the new genetics). • Emery J, Walton R, Murphy M, et al. (2000) Computer support for interpreting family histories of breast and ovarian cancer in primary care : comparative study with simulated cases. British Medical Journal, 321:28-32. • Emery J, Watson E, Rose P, et al. (1999) A systematic review of the literature exploring the role of primary care in genetic services. Family Practice, 16, No 4:426-445. Slide Eighteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  19. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • References(continued) • Houlston RS, Murday V, Harocopes C, et al. (1990) Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. British Medical Journal, 301:366-368. • House W, Sharp D and Sheridan E. (1999) Identifying and screening patients at high risk of colo-rectal cancer in general practice. Journal of Medical Screening, 6(4):205-208. • Leggat V, Mackay J, Marteau T, et al. (2000) The psychological impact of a cancer family history questionnaire completed in general practice. Journal of Medical Genetics, 37:470-472. • Leggat V, Mackay J, and Yates JRW. (1999) Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice. British Medical Journal, 319:757-758. • Lovett E. (1976a) Familial cancer of the gastro-intestinal tract. British Journal of Surgery, 63:19-22. Slide Nineteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  20. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • References(continued) • Lovett E. (1976b) Family studies in cancer of the colon and rectum. British Journal of Surgery, 63:13-18. • Lynch HT, Smyrk T and Lynch JF. (1996) Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). International Journal of Cancer, 69:38-43. • Lynch PM. (1999) Clinical challenges in management of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. Cancer, 86:1713-1719. • Lynch T and Smyrk TC. (1999) Hereditary Colorectal Cancer. Seminars in Oncology, 5:478-484. • Peckham CS and Dezateux C. (1998) Screening. The Royal Society of Medicine Press Limited, London. • Petersen GM. (1996) Genetic counselling and predictive testing for colorectal cancer risk. International Journal of Cancer, 69:53-54. Slide Twenty *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  21. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • References(continued) • Petersen GM, Brensinger JD, Johnson KA, et al. (1999) Genetic testing and counselling for hereditary forms of colorectal cancer. Cancer, 86:1720-1730. • Potter JD, Slattery ML, Bostick RM, et al. (1993) Colon Cancer: A review of the epidemiology. Epidemiologic Reviews, 15, No 2:499-545. • Slattery ML and Kerber RA. (1994) Family history of Cancer and colon cancer risk: the Utah population database. Journal of the National Cancer Institute, 86:1618-1625. • St.John DJB, McDermott FT, Hopper AL, et al. (1993) Cancer risk in relatives of patients with common colorectal cancer. Annals of internal medicine, 118:785-790. • Toribara NW and Sleisenger MH. (1995) Screening for colo-rectal cancer. New England Journal of Medicine, 332:861-867. • Vogelstein B, Fearon ER, Hamilton SR, et al. (1988) Genetic alterations during colo-rectal tumour development. New England Journal of Medicine, 319:525-532. Slide Twenty One *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  22. FACET - European Journal of Cancer Care March 2004 Genetics of colorectal cancer(continued) • References(continued) • Westman J, Hampel H and Bradley T. (2000) Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment. Journal of Medical Genetics, 37:354-360. • Wilmink ABM. (1997) Overview of the epidemiology of colorectal cancer. Diseases of the Colon and Rectum, 40, 4:483-493. • Winawer SJ, Zauber AG, O'Brien MJ, et al. (1993) Prevention of colo-rectal cancer by colonoscopic polypectomy. New England Journal of Medicine, 329:1977-1981. Slide Twenty Two *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

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