Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms

Cancer

Volumn 104, Issue 4, 2005, Pages 719-729

  Zauber, N Peter ^a   Sabbath Solitare, Marlene ^a   Marotta, Stephen ^a   Zauber, Ann G ^b   Foulkes, William ^c   Chan, May ^d   Turner, Faye ^d   Bishop, D Timothy ^d  

^a SAINT BARNABAS MEDICAL CENTER   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

APC; APC:I1307K; BLMAsh; Colorectal adenoma; Colorectal carcinoma; Germline Ashkenazi Jewish mutations; KRAS; MSH2* 1906G>C

Indexed keywords

ANTIGEN PRESENTING CELL; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CIGARETTE SMOKING; CLINICAL FEATURE; CODON; COLORECTAL TUMOR; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; JEW; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; ONCOGENE K RAS; PRIORITY JOURNAL; TUMOR LOCALIZATION;

ADENOSINE TRIPHOSPHATASES; COLORECTAL NEOPLASMS; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; GENES, APC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; JEWS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; SMOKING;

EID: 23444452690     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/cncr.21230     Document Type: Article

References (24)

1. Boland CR. Understanding familial colorectal cancer-finding the corner pieces and filing in the center of the puzzle. Gastroenterology. 2004;127:334-343.
2. Laken SJ, Peterson GM, Gruber SB, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet. 1997;17:79-83.
3. Syngal S, Schrag D, Falchuk M, et al. Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. JAMA. 2000;284:857-860.
4. Gryfe R, DiNicola N, Lal G, Gallinger S, Redston M. Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Am J Hum Genet. 1999;64:378-384.
5. Stern HS, Viertelhausen S, Hunter AGW, et al. APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology. 2001;120:392-400.
6. Foulkes WD, Thiffault I, Gruber SB, et al. The founder mutation MSH2* 1906G to C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet. 2002;71:1395-1412.
7. Gruber SB, Ellis NA, Rennert G, et al. BLM heterozygosity and the risk of colorectal cancer. Science. 2002;297:2013.
8. Ash mutation and cancer risk. Cancer Res. 2003;63:1769-1771.
9. Zauber NP, Sabbath-Solitare M, Marotta SP, Zauber AG, Bishop DT. Molecular changes in the Ki-ras and APC genes in colorectal adenomas and carcinomas arising in the same patient. J Pathol. 2001;193:303-309.
10. Jen J, Kim H, Piantadosi S, et al. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med. 1994; 331:213-221.
11. Loukola A, Eklin K, Laiho, P, et al. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res. 2001;61:4545-4559.
12. Diggle P, Heagerty P, Liang K-Y, Zeger S. Analysis of longitudinal data. 2nd edition. Oxford: Oxford University Press, 2002.
13. Zauber NP, Sabbath-Solitare M, Marotta SP, Bishop DT. The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. J Pathol. 2003; 199:146-151.
14. Lowy AM, Kordich JJ, Gismondi V, Varesco L, Blough RI, Groden J. Numerous colonic adenomas in an individual with Bloom's syndrome. Gastroenterology. 2001;121:435-439.
15. Rozen P, Shomrat R, Strul H, et al. Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. Gastroenterology. 1999;116:54-57.
16. Shtoyerman-Chen R, Friedman E, Figer A, et al. The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect. Genet Test. 2001;5:141-146.
17. Niell BL, Long JC, Rennert G, Gruber SB. Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim. Am J Hum Genet. 2003;73:1250-1260.
18. Prior TW, Chadwick RB, Papp AC, et al. The I1307K polymorphism of the APC gene in colorectal cancer. Gastroenterology. 1999;116:58-63.
19. Woodage T, King SM, Wacholder S, et al. The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet. 1998;20:62-65.
20. Strul H, Barenboim E, Leshno M, et al. The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. Cancer Epidemiol Biomarkers Prev. 2003; 12:1012-1015.
21. Rozen P, Naiman T, Strul H, et al. Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Cancer. 2002;94:2561-2568.
22. Figer A, Shtoyerman-Chen R, Tamir A, et al. Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. Br J Cancer. 2001;85:1368-1371.
23. Gryfe R, DiNicola N, Gallinger S, Redston M. Somatic instability of the APC I1307K allele in colorectal neoplasia. Cancer Res. 1998;58:4040-4043.
24. Fidder NH, Chen-Shtoyerman R, Barshack I, et al. Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. Dig Dis Sci. 2003; 48:1102-1105.