Genetic testing and counseling for hereditary forms of colorectal cancer

Cancer

Volumn 86, Issue 8 SUPPL., 1999, Pages 1720-1730

  Petersen, Gloria M ^a,b,c   Brensinger, Jill D ^b   Johnson, Karen A ^b   Giardiello, Francis M ^b  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Colon cancer genetic testing; Familial adenomatous polyposis; Genetic counseling; Hereditary nonpolyposis colorectal cancer

Indexed keywords

CANCER GENETICS; CANCER RISK; CANCER SCREENING; COLORECTAL CANCER; CONFERENCE PAPER; FAMILIAL CANCER; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC SUSCEPTIBILITY; HUMAN; MICROSATELLITE INSTABILITY; NONSENSE MUTATION; PATIENT EDUCATION; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0033569788     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0142(19991015)86:8+<1720::aid-cncr11>3.0.co;2-0     Document Type: Conference Paper

References (40)

1. American Cancer Society. Cancer facts & figures - 1999. Atlanta: American Cancer Society, 1999.
2. Burt RW, Petersen GM. Familial colorectal cancer: diagnosis and management. In: Prevention and early detection of colorectal cancer. Young GP, Rozen P, Levin B, editors. London: WB Saunders, 1996:171-94.
3. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 1996; 78:1149-67.
4. Utsunomiya J, Lynch HT. Hereditary colorectal cancer. Tokyo: Springer-Verlag, 1990.
5. Herrera L. Familial adenomatous polyposis. New York: Alan R. Liss, 1990.
6. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-5.
7. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
8. Leppert M, Burt R, Hughes J, Samowitz W, Nakamura Y, Woodward S, et al. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Eng J Med 1990;322:904-8.
9. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-57.
10. Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene. Gut 1998;43:548-52.
11. Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998;62:1290-1301.
12. Pedemonte S, Sciallero S, Gismondi V, Stagnaro P, Biticchi R. Novel germline APC variants in patients with multiple adenomas. Genes Chromosomes Cancer 1998;22:257-67.
13. Leach FS, Nicolaides N, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell 1993;75:1215-25.
14. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994;263:1625-29.
15. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371:75-80.
16. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. Germline mutation of hMSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet 1997;17:271-2.
17. Lynch HT, Smyrk TC. Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet 1998; 62:1288-89.
18. Vasen HFA, Mecklin JP, Meera Khan P, Lynch HT. Hereditary nonpolyposis colorectal cancer. Lancet 1991;338:877.
19. Peltomaki P, Vasen HFA, International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 1997;113:1146-58.
20. Beck NE, Tomlinson IPM, Homfray T, Dodgson SV, Harocopos CJ, Bodmer WF. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surgery 1997;84:223-37.
21. Vasen HFA, Offerhaus GJA, den Hartog Jager FCA, Menko FH, Nagengast FM, et al. The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer 1990;46:31-34.
22. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-85.
23. Laken SJ, Petersen GM, Gruber SB, Oddoux, C, Ostrer H, Giardiello FM et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet 1997; 17:79-83.
24. Johnson KA, Rosenblum-Vos LS, Petersen GM, Brensinger JD, Giardiello FM, Griffin CA. Colon cancer gene testing for APC I1307K in Ashkenazi Jews: the Hopkins experience. Proceedings of the American Society of Clinical Oncology Philadelphia, PA 1998;17:548a.
25. Petersen GM, Boyd PA. Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. J Natl Cancer Inst Monogr 1995;17:67-71.
26. Petersen GM, Brensinger J. Gene tests and genetic counseling in familial adenomatous polyposis. Oncology 1996;10: 89-94.
27. Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. JAMA 1997;277:915-19.
28. Offit K. Clinical cancer genetics. New York: Wiley-Liss, 1998.
29. Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci 1992; 89:4452-6.
30. Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen G, Vogelstein B, et al. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1992;1:467-73.
31. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-87.
32. Nystrom-Lahti M, Parsons R, Sistonen P, Pylkkanen L, Aaltonen LA, Leach FS, et al. Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet 1994;55:659-65.
33. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
34. Peltomaki P, Lothe RA, Aaltonen LA, Pylkkanen L, NystromLahti M, Seruca R, et al. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res 1993;53: 5853-55.
35. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-62.
36. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. (eds.). A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
37. Cromwell DM, Moore RD, Brensinger JD, Petersen GM, Bass EB, Giardiello FM. Cost analysis of alternative approaches to colorectal screening in familial adenomatous polyposis. Gastroenterology 1998;114:893-901.
38. Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Bacon JA, Booker SV, et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997;336:823-27.
39. Geller G, Botkin JR, Green MJ, Press N, Biesecker B, Wilfond B, et al. Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. JAMA 1997;277:1467-74.
40. Codori AM, Petersen GM, Corazzini K, Bacon J, Loth DM, Boyd PA, et al. Genetic testing for cancer in children: short-term psychological impact. Arch Pediatr Adolesc Med 1996; 150:1131-8.