Skip to main content
PMC home page
British Journal of Cancer logoLink to British Journal of Cancer
. 2000 Jun 15;83(2):153–155. doi: 10.1054/bjoc.2000.1248

Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers

R Gershoni-Baruch 1,2, Y Patael 3, Dagan 1,2, A Figer 4, L Kasinetz 1, E Kadouri 1, R Bruchim Bar Sade 3, E Friedman 3
PMCID: PMC2363478  PMID: 10901363

Abstract

The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n = 53) and healthy controls (n = 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry. © 2000 Cancer Research Campaign

Keywords: breast cancer, ovarian cancer, BRCA1, BRCA2, APC, I1307K polymorphism

Full Text

The Full Text of this article is available as a PDF (43.2 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abeliovich D., Kaduri L., Lerer I., Weinberg N., Amir G., Sagi M., Zlotogora J., Heching N., Peretz T. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997 Mar;60(3):505–514. [PMC free article] [PubMed] [Google Scholar]
  2. Bar-Sade R. B., Kruglikova A., Modan B., Gak E., Hirsh-Yechezkel G., Theodor L., Novikov I., Gershoni-Baruch R., Risel S., Papa M. Z. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet. 1998 May;7(5):801–805. doi: 10.1093/hmg/7.5.801. [DOI] [PubMed] [Google Scholar]
  3. Friedman L. S., Szabo C. I., Ostermeyer E. A., Dowd P., Butler L., Park T., Lee M. K., Goode E. L., Rowell S. E., King M. C. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet. 1995 Dec;57(6):1284–1297. [PMC free article] [PubMed] [Google Scholar]
  4. Kashiwaba M., Tamura G., Ishida M. Aberrations of the APC gene in primary breast carcinoma. J Cancer Res Clin Oncol. 1994;120(12):727–731. doi: 10.1007/BF01194271. [DOI] [PubMed] [Google Scholar]
  5. Laken S. J., Petersen G. M., Gruber S. B., Oddoux C., Ostrer H., Giardiello F. M., Hamilton S. R., Hampel H., Markowitz A., Klimstra D. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet. 1997 Sep;17(1):79–83. doi: 10.1038/ng0997-79. [DOI] [PubMed] [Google Scholar]
  6. Lerman L. S., Fischer S. G., Hurley I., Silverstein K., Lumelsky N. Sequence-determined DNA separations. Annu Rev Biophys Bioeng. 1984;13:399–423. doi: 10.1146/annurev.bb.13.060184.002151. [DOI] [PubMed] [Google Scholar]
  7. Modan B., Gak E., Sade-Bruchim R. B., Hirsh-Yechezkel G., Theodor L., Lubin F., Ben-Baruch G., Beller U., Fishman A., Dgani R. High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. National Israel Study of Ovarian Cancer. JAMA. 1996 Dec 11;276(22):1823–1825. [PubMed] [Google Scholar]
  8. Myers R. M., Maniatis T., Lerman L. S. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol. 1987;155:501–527. doi: 10.1016/0076-6879(87)55033-9. [DOI] [PubMed] [Google Scholar]
  9. Neuhausen S., Gilewski T., Norton L., Tran T., McGuire P., Swensen J., Hampel H., Borgen P., Brown K., Skolnick M. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 1996 May;13(1):126–128. doi: 10.1038/ng0596-126. [DOI] [PubMed] [Google Scholar]
  10. Patael Y., Figer A., Gershoni-Baruch R., Papa M. Z., Risel S., Shtoyerman-Chen R., Karasik A., Theodor L., Friedman E. Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews. Eur J Hum Genet. 1999 Jul;7(5):555–559. doi: 10.1038/sj.ejhg.5200325. [DOI] [PubMed] [Google Scholar]
  11. Petrukhin L., Dangel J., Vanderveer L., Costalas J., Bellacosa A., Grana G., Daly M., Godwin A. K. The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. Cancer Res. 1997 Dec 15;57(24):5480–5484. [PubMed] [Google Scholar]
  12. Redston M., Nathanson K. L., Yuan Z. Q., Neuhausen S. L., Satagopan J., Wong N., Yang D., Nafa D., Abrahamson J., Ozcelik H. The APCI1307K allele and breast cancer risk. Nat Genet. 1998 Sep;20(1):13–14. doi: 10.1038/1666. [DOI] [PubMed] [Google Scholar]
  13. Rohlfs E. M., Learning W. G., Friedman K. J., Couch F. J., Weber B. L., Silverman L. M. Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chem. 1997 Jan;43(1):24–29. [PubMed] [Google Scholar]
  14. Thompson A. M., Morris R. G., Wallace M., Wyllie A. H., Steel C. M., Carter D. C. Allele loss from 5q21 (APC/MCC) and 18q21 (DCC) and DCC mRNA expression in breast cancer. Br J Cancer. 1993 Jul;68(1):64–68. doi: 10.1038/bjc.1993.287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Tonin P., Weber B., Offit K., Couch F., Rebbeck T. R., Neuhausen S., Godwin A. K., Daly M., Wagner-Costalos J., Berman D. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med. 1996 Nov;2(11):1179–1183. doi: 10.1038/nm1196-1179. [DOI] [PubMed] [Google Scholar]
  16. Woodage T., King S. M., Wacholder S., Hartge P., Struewing J. P., McAdams M., Laken S. J., Tucker M. A., Brody L. C. The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet. 1998 Sep;20(1):62–65. doi: 10.1038/1722. [DOI] [PubMed] [Google Scholar]

Articles from British Journal of Cancer are provided here courtesy of Cancer Research UK

RESOURCES