Skip to main content
Top
Published in: Diseases of the Colon & Rectum 12/2005

01-12-2005 | Original Contribution

Colorectal Polyps in Carriers of the APC I1307K Polymorphism

Authors: Gad Rennert, M.D., Ph.D., Ronit Almog, M.D., M.P.H., Lynn P. Tomsho, B.S., Marcelo Low, M.P.H., Mila Pinchev, M.D., Yoram Chaiter, M.D., M.Sc., Joseph D. Bonner, M.S., Hedy S. Rennert, M.P.H., Joel K. Greenson, M.D., Stephen B. Gruber, M.D., Ph.D., M.P.H.

Published in: Diseases of the Colon & Rectum | Issue 12/2005

Login to get access

PURPOSE

The probability of colorectal cancer is moderately increased among carriers of the APC I1307K polymorphism. However, it is not known if endoscopic surveillance of this high-risk group is warranted. The prevalence of polyps and adenomas in specimens of colorectal cancer who are carriers and noncarriers of the APC I1307K polymorphism is compared.

METHOD

Prevalence of adenomatous polyps in the pathology specimens of the study participants, stratified by their APC I1307K polymorphism status, was studied in 900 consecutive cases of colorectal cancer diagnosed in northern Israel between 1998 and 2002, within the framework of a population-based, case-controlled study (MECC Study).

RESULTS

The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study population. Prevalence was higher among Ashkenazi Jews (11.2 percent) than among non-Ashkenazi Jews (2.7 percent) or Arabs (3.1 percent). After adjustment for age, APC I1307K carriers were significantly more likely than noncarriers to have polyps in their surgical specimen (51.3 percent vs. 32.6 percent, P = 0.002). Adenomas with a tubular component (either tubular adenomas or tubulovillous adenomas), but not villous adenomas, were significantly more frequent among carriers (37.2 percent vs. 23.6 percent, P = 0.005).

CONCLUSION

Together with former evidence of I1307K being a risk factor for colorectal cancer, these data suggest that colonoscopic surveillance for colorectal adenomas and cancer may be warranted in I1307K carriers, even in the absence of other identifiable risk factors.
Literature
1.
go back to reference Laken, SJ, Petersen, GM, Gruber, SB, et al. 1997Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APCNat Genet177983PubMedCrossRef Laken, SJ, Petersen, GM, Gruber, SB,  et al. 1997Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APCNat Genet177983PubMedCrossRef
2.
go back to reference Gryfe, R, Nicola, N, Lal, G, Gallinger, S, Redston, M 1999Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphismAm J Hum Genet6437884PubMedCrossRef Gryfe, R, Nicola, N, Lal, G, Gallinger, S, Redston, M 1999Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphismAm J Hum Genet6437884PubMedCrossRef
3.
go back to reference Shtoyerman-Chen, R, Friedman, E, Figer, A, et al. 2001The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effectGenet Test51416PubMedCrossRef Shtoyerman-Chen, R, Friedman, E, Figer, A,  et al. 2001The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effectGenet Test51416PubMedCrossRef
4.
go back to reference Drucker, L, Shpilberg, O, Neumann, A, et al. 2000Adenomatous polyposis coli I1307K mutation in Jewish patients with different ethnicity: prevalence and phenotypeCancer8875560PubMedCrossRef Drucker, L, Shpilberg, O, Neumann, A,  et al. 2000Adenomatous polyposis coli I1307K mutation in Jewish patients with different ethnicity: prevalence and phenotypeCancer8875560PubMedCrossRef
5.
go back to reference Rozen, P, Shomrat, R, Strul, H, et al. 1999Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancerGastroenterology116547PubMedCrossRef Rozen, P, Shomrat, R, Strul, H,  et al. 1999Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancerGastroenterology116547PubMedCrossRef
6.
go back to reference Redston, M, Nathanson, KL, Yuan, ZQ, et al. 1998The APCI1307K allele and breast cancer risk [letter]Nat Genet20134PubMedCrossRef Redston, M, Nathanson, KL, Yuan, ZQ,  et al. 1998The APCI1307K allele and breast cancer risk [letter]Nat Genet20134PubMedCrossRef
7.
go back to reference Woodage, T, King, SM, Wacholder, S, et al. 1998The APC I1307K allele and cancer risk in a community-based study of Ashkenazi JewsNat Genet20625PubMedCrossRef Woodage, T, King, SM, Wacholder, S,  et al. 1998The APC I1307K allele and cancer risk in a community-based study of Ashkenazi JewsNat Genet20625PubMedCrossRef
8.
go back to reference Gruber, SB, Petersen, GM, Kinzler, KW, Vogelstein, B 1999Cancer, crash sites, and the new genetics of neoplasiaGastroenterology1162102PubMedCrossRef Gruber, SB, Petersen, GM, Kinzler, KW, Vogelstein, B 1999Cancer, crash sites, and the new genetics of neoplasiaGastroenterology1162102PubMedCrossRef
9.
go back to reference Silverberg, MS, Clelland, C, Murphy, JE, et al. 2001Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish originHum Genet10820510PubMedCrossRef Silverberg, MS, Clelland, C, Murphy, JE,  et al. 2001Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish originHum Genet10820510PubMedCrossRef
10.
go back to reference Syngal, S, Schrag, D, Falchuk, M, et al. 2000Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polypsJAMA28485760PubMedCrossRef Syngal, S, Schrag, D, Falchuk, M,  et al. 2000Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polypsJAMA28485760PubMedCrossRef
11.
go back to reference Lamlum, H, Tassan, N, Jaeger, E, et al. 2000Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317QHum Mol Genet9221521PubMed Lamlum, H, Tassan, N, Jaeger, E,  et al. 2000Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317QHum Mol Genet9221521PubMed
12.
go back to reference Jarvinen, HJ, Aarnio, M, Mustonen, H, et al. 2000Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancerGastroenterology11882934PubMedCrossRef Jarvinen, HJ, Aarnio, M, Mustonen, H,  et al. 2000Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancerGastroenterology11882934PubMedCrossRef
13.
go back to reference Gruber SB. Assay for detecting the I1307K susceptibility allele within the adenomatous polyposis coli gene. In: Killeen AA, ed. Methods in molecular medicine. Totowa, NJ: Humana Press, 2001:263-70 Gruber SB. Assay for detecting the I1307K susceptibility allele within the adenomatous polyposis coli gene. In: Killeen AA, ed. Methods in molecular medicine. Totowa, NJ: Humana Press, 2001:263-70
14.
go back to reference Niell, BL, Long, JC, Rennert, G, Gruber, SB 2003Genetic anthropology of the colorectal cancer susceptibility allele APC I1307KAm J Hum Genet73125060PubMedCrossRef Niell, BL, Long, JC, Rennert, G, Gruber, SB 2003Genetic anthropology of the colorectal cancer susceptibility allele APC I1307KAm J Hum Genet73125060PubMedCrossRef
15.
go back to reference Figer, A, Shtoyerman-Chen, R, Tamir, A, et al. 2001Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic casesBr J Cancer85136871PubMedCrossRef Figer, A, Shtoyerman-Chen, R, Tamir, A,  et al. 2001Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic casesBr J Cancer85136871PubMedCrossRef
16.
go back to reference Stern, HS, Viertelhausen, S, Hunter, AG, et al. 2001APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi JewsGastroenterology120392400PubMedCrossRef Stern, HS, Viertelhausen, S, Hunter, AG,  et al. 2001APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi JewsGastroenterology120392400PubMedCrossRef
Metadata
Title
Colorectal Polyps in Carriers of the APC I1307K Polymorphism
Authors
Gad Rennert, M.D., Ph.D.
Ronit Almog, M.D., M.P.H.
Lynn P. Tomsho, B.S.
Marcelo Low, M.P.H.
Mila Pinchev, M.D.
Yoram Chaiter, M.D., M.Sc.
Joseph D. Bonner, M.S.
Hedy S. Rennert, M.P.H.
Joel K. Greenson, M.D.
Stephen B. Gruber, M.D., Ph.D., M.P.H.
Publication date
01-12-2005
Publisher
Springer-Verlag
Published in
Diseases of the Colon & Rectum / Issue 12/2005
Print ISSN: 0012-3706
Electronic ISSN: 1530-0358
DOI
https://doi.org/10.1007/s10350-005-0167-9

Other articles of this Issue 12/2005

Diseases of the Colon & Rectum 12/2005 Go to the issue