Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 378-384

  Gryfe, Robert ^a,b   Di Nicola, Nando ^a   Geeta, Lal ^a,b   Gallinger, Steven ^a,b   Redston, Mark ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; CYTOSKELETON PROTEIN;

AGED; ARTICLE; COLON POLYPOSIS; COLON TUMOR; FEMALE; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETICS; HUMAN; MALE; PANCREAS TUMOR; RISK FACTOR;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; AGED; COLONIC NEOPLASMS; CYTOSKELETAL PROTEINS; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; PANCREATIC NEOPLASMS; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 0033069722     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302262     Document Type: Article

References (25)

1. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, et al (1998) Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 338: 1481-1486
2. Abrahamson J, Moslehi R, Vesprini D, Karlan B, Fishman D, Smotkin D, Ben David Y, et al (1998) No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. Cancer Res 58:2919-2922
3. American Society of Clinical Oncology (1996) Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol 14:1730-1736
4. Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt, RW (1988) Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 319:533-537
5. Centers for Disease Control and Prevention (1996) Screening for colorectal cancer - United States, 1992-1993, and new guidelines. MMWR Morb Mortal Wkly Rep 45:107-110
6. Clayton EW, Steinberg KK, Khoury MJ, Thomson E, Andrews L, Kahn MJ, Kopelman LM, et al (1995) Informed consent for genetic research on stored tissue samples JAMA 274: 1786-1792
7. Fernandes MJG, Kaplan F, Clow CL, Hechtman P, Scriver CR (1992) Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Genet Epidemiol 9: 169-175
8. Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, et al (1998) The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 95: 10722-10727
9. Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC (1994) A prospective study of family history and the risk of colorectal cancer. N Engl J Med 331: 1669-1674
10. Gryfe R, Di Nicola N, Gallinger S, Redston M (1998) Somatic instability of the APC I1307K allele in colorectal neoplasia. Cancer Res 58:4040-4043
11. Jen J, Kim H, Piantadosi S, Liu ZF, Levitt RC, Sistonen P, Kinzler KW, et al (1994) Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med 331: 213-221
12. Kinzler KW, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159-170
13. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, et al ( 1997) Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83
14. Landis SH, Murray T, Bolden S, Wingo PA (1998) Cancer statistics, 1998. CA Cancer J Clin 48:6-29 (erratum: CA Cancer J Clin 48:192)
15. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, et al (1996) The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 14:188-190
16. Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, et al (1997) Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 16:17-18
17. Petersen GM, Parmigiani G, Thomas D (1998) Missense mutations in disease genes: a Bayesian approach to evaluate causality. Am J Hum Genet 62:1516-1524
18. Petrukhin L, Dangel J, Vanderveer L, Costalas J, Bellacosa A, Grana G, Daly M, et al (1997) The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. Cancer Res 57: 5480-5484
19. Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187
20. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, et al (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951-957
21. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams MS, Timmerman BS, et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336: 1401-1408
22. van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ, Fodde R (1996) Germline mutations of the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98:727-734
23. Winawer SJ, Fletcher RH, Miller L, Godlee F, Stolar MH, Mulrow CD, Woolf SH, et al (1997) Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 112:594-642
24. Winawer SJ, Zauber AG, Gerdes H, O'Brien MJ, Gottlieb LS, Sternberg SS, Bond JH, et al (1996) Risk of colorectal cancer in the families of patients with adenomatous polyps. N Engl J Med 334:82-87
25. Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, et al ( 1998) The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 20:62-65