Concept Richtlijn Erfelijke darmkanker 2007 versie 7 - Oncoline

Literatuur1. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A et al.Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer1999;81:214-8.2. Begg CB. On the use of familial aggregation in population-based case probands forcalculating penetrance. J Natl Cancer Inst 2002;94:1221-6.3. Buttin BM, Powell MA, Mutch DG, Babb SA, Huttner PC, Edmonston TB et al.Penetrance and expressivity of MSH6 germline mutations in seven kindreds notascertained by family history. Am J Hum Genet 2004;74:1262-9.4. Carayol J, Khlat M, Maccario J, Bonaiti-Pellie C. Hereditary non-polyposis colorectalcancer: current risks of colorectal cancer largely overestimated. J Med Genet2002;39:335-9.5. Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Grönberg H. TwoSwedish founder MSH6 mutations, one nonsense and one missense, conferring highcumulative risk of Lynch syndrome. Clin Genet 2005;68:533-41.6. Dove-Edwin I, de Jong AE, Adams J, Mesher D, Lipton L, Sasieni P, et al. Prospectiveresults of surveillance colonoscopy in dominant familial colorectal cancer with and withoutLynch syndrome. Gastroenterology 2006;130:1995-2000.7. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, et al. Cancer riskassociated with germline DNA mismatch repair gene mutations. Hum Mol Genet1997;6:105-10.8. Edwards AG, Evans R, Dundon J, Haigh S, Hood K, Elwyn GJ. Personalised riskcommunication for informed decision making about taking screening tests. CochraneDatabase Syst Rev 2006;4:CD0018659. Gigerenzer G, Edwards A. Simple tools for understanding risks: from innumeracy toinsight. BMJ 2003; 327:741-4.10. Grimes DA, Snively GR. Patients’ understanding of medical riks: implication for geneticcounselling. Obstet. Gynaecol. 1999;93:910-4.11. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin J-P et al. Cancerrisk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.Gastroenterology 2005;129:415-21.12. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F et al.Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impacton counseling and surveillance. Gastroenterology 2004;27:17-25.13. Järvinen HJ, Aarnio M, Mustonen H, Ktan-Collan K, Aaltonen LA, Peltomäki P et al.Controlled 15-year trial on screening for colorectal cancer in families with hereditarynonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34.14. Lindor NM, Rabe K, Petersen GM, Haile R Casey G, Baron J et al. Lower cancerincidence in Amsterdam-I criteria families without mismatch repair deficiency: familialcolorectal cancer type X. JAMA 2005;293:1979-85.15. Myrhoj T, Bisgaard ML, Bernstein I, Svendsen LB, Sondergaard JO, Bülow S. Hereditarynon-polyposis colorectal cancer: clinical features and survival. Results from the DanishHNPCC register. Scand J Gastroenterol 1997;32:572-6.16. Plaschke J, Engel C, Kruger S, Holinski-Feder E, Pagenstecher C, Mangold E et al.Lower incidence of colorectal cancer and later age of disease onset in 27 families withpathogenic MSH6 germline mutations compared with families with MLH1 or MSH2mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J ClinOncol 2004;22:4486-94.Concept landelijke richtlijn erfelijke darmkanker versie 7 d.d. 7 november 2007.52