Abstract
A germline sequence alteration at codon 1307 of the APC gene (I1307K) has been reported in 6 – 7% of the Ashkenazi Jewish population in the United States. This alteration is believed to predispose the APC gene to a secondary mutation at the same locus, resulting in an increased risk of colorectal carcinoma. There is an increased risk of colorectal carcinoma in patients with inflammatory bowel disease (IBD), a relatively large proportion of whom are Ashkenazi Jews. We therefore sought to determine whether the I1307K sequence variant occurred in the germline DNA of IBD patients. To our surprise, we found this sequence in only two of 267 patients with IBD (0.7%), occurring in only 1.5% of Jewish IBD patients. The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. These findings suggest that the I1307K sequence is relatively rare in the germline of Jewish as well as non-Jewish IBD patients. It does not appear to contribute to the increased colorectal cancer risk present in these patients.
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Abbreviations
- MSI-H:
-
microsatellite instability-high
- MSI-L:
-
microsatellite instability-low
- MSI-negative:
-
microsatellite instability-negative
References
Abrahamson J, Moslehi R, Vesprini D, Karlan B, Fishman D, Smotkin D, Ben David Y, Biran H, Fields A, Brunet JS and Narod SA. . 1998 Cancer Res. 58: 2919–2922.
Asaka M, Takeda H, Sugiyama T and Kato M. . 1997 Gastroenterology 113: S56–S60.
Cho KR and Vogelstein B. . 1992 J. Cell Biochem. Suppl. 16G: 137–141.
Ekbom A, Helmick CG, Zack M, Holmberg L and Adami HO. . 1992 Gastroenterology 103: 954–960.
Harpaz N and Talbot IC. . 1996 Semin. Diagn. Pathol. 13: 339–357.
Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW and Vogelstein B. . 1997 Nat. Genet. 17: 79–83.
Lothe RA, Hektoen M, Johnsen H, Meling GI, Andersen TI, Rognum TO, Lindblom A and Borresen-Dale AL. . 1998 Cancer Res. 58: 2923–2924.
Lowenfels AB, Maisonneuve P, Cavallini G, Ammann RW, Lankisch PG, Andersen JR, Dimagno EP, Andren-Sandberg A and Domellof L. . 1993 N. Engl. J. Med. 328: 1433–1437.
Nugent FW, Haggitt RC and Gilpin PA. . 1991 Gastroenterology 100: 1241–1248.
Petrukhin L, Dangel J, Vanderveer L, Costalas J, Bellacosa A, Grana G, Daly M and Godwin AK. . 1997 Cancer Res. 57: 5480–5484.
Roth MP, Petersen GM, McElree C, Vadheim CM, Panish JF and Rotter JI. . 1989 Gastroenterology 96: 1016–1020.
Rozen, P, Shomrat R, Strul H, Naiman T, Karminsky N, Legum C and Orr-Urtreger A. . 1999 Gastroenterology 116: 54–57.
Smith KJ, Johnson KA, Bryan TM, Hill DE, Markowitz S, Willson JK, Paraskeva C, Petersen GM, Hamilton SR, Vogelstein B et al. 1993 Proc. Natl. Acad. Sci. USA 90: 2846–2850.
Zlotogora J, Zimmerman J and Rachmilewitz D. . 1991 Dig. Dis. Sci. 36: 471–475.
Acknowledgements
The authors thank Ms Crystal Lewis for ascertaining ethnicity of the IBD patients; and Drs Laurence S Magder and J Richard Hebel of the Department of Epidemiology and Preventive Medicine for assistance with statistical calculations. Supported by USPHS grants CA77057, CA78843, DK47717, CA67497 and DK53620 and the Office of Medical Research, Department of Veterans Affairs.
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Yin, J., Harpaz, N., Souza, R. et al. Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease. Oncogene 18, 3902–3904 (1999). https://doi.org/10.1038/sj.onc.1202638
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DOI: https://doi.org/10.1038/sj.onc.1202638
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