Abstract
It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition. © 2001 Cancer Research Campaign
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References
Anderson DE and Badzioch MD (1993) Familial breast cancer risks – effects of prostate and other cancers. Cancer 72(1): 114–119
Bar-Chana M, Andreev H and Alon R (1996) Cancer in Israel. Israel Cancer Registry, (1993). Ministry of Health, State of Israel Publication: Jerusalem
Bruchim Bar-Sade R, Kruglikova A, Modan B, Gak E, Hirsh-Yechezkel G, Theodor L, Novikov I, Gershoni-Baruch R, Risel S, Papa MZ, Ben-Baruch G and Friedman E (1998) The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and not limited to Ashkenazim. Hum Mol Genet 7: 801–806
Burke W, Daly M, Garber J, Botkin J, Ellis Kahn MJ, Lynch P, McTierman A, Offit K, Perlman J, Petersen G, Thomson E and Varricchio C (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. JAMA 277: 997–1003
Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tartter PI and Browser ST (1998) Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer. Am J Hum Genet 63: 45–51
Ford D, Easton DF, Bishop DT, Narod SA and Goldgar DE (1994) Risks of cancer in BRCA1 mutation carriers. Breast Cancer Linkage Consortium. Lancet 343: 692–695
Garcia-Patino E, Gomendio B, Lleonart M, Silva JM, Garcia JM, Provencio M, Cubedo R, Espana P, Ramon y Cajal S and Bonilla F (1998) Loss of heterozygosity in the region including the BRCA1 gene on 17q in colon cancer. Cancer Genet Cytogenet 104(2): 119–123
Hubert A, Peretz T, Manor O, Kaduri L, Wienberg N, Lerer I, Sagi M and Abeliocvich D (1999) The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased rate in Ashkenazi patients with prostate cancer. Am J Hum Genet 65: 921–924
Lehrer S, Fodor F, Stock RG, Stone NN, Eng C, Song HK and McGovern M (1998) Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer. Br J Cancer 78: 771–773
Lin KM, Ternent CA, Adams DR, Thorson AG, Blatchford GJ, Christensen MA, Watson P and Lynch HT (1999) Colorectal cancer in hereditary breast cancer kindreds. Dis Colon Rectum 42(8): 1041–1045
Olsen JH, Seersholm N, Boice JD Jr, Kruger Kjaer S and Fraumeni JF Jr (1999) Cancer risk in close relatives of women with early-onset breast cancer – a population-based incidence study. Br J Cancer 79(3–4): 673–679
Phipps RF and Perry PM (1989) Familial breast cancer and the association with colonic carcinoma. Eur J Surg Oncol 15(2): 109–111
Roa BB, Boyd AA, Volcick K and Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14: 185–187
Rohlfs EM, Learning WG, Friedman KJ, Couch FJ, Weber BL and Silverman LM (1997) Direct detection of mutations in breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chem 43: 24–29
Rozen P, Fireman Z and Ron E (1986) Colorectal tumor screening in women with a past history of breast, uterine or obvarian malignancies. Cancer 57(6): 1235–1239
Schoen RE, Weissfeld JL and Kuller LH (1994) Are women with breast, endometrial, or ovarian cancer at increased risk for colorectal cancer?. Am J Gastroenterol 89(6): 835–842
Slattery ML and Kerber RA (1994) Family history of cancer and colon cancer risk: the Utah Population Database. J Natl Cancer Inst 86(21): 1618–1626
Stoll BA (1998) Association between breast and colorectal cancers. Br J Surg 5(11): 1468–1472
Streuwing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FC and Brody LC (1995) The carrier frequency of the 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11: 198–200
Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M and McAdams M (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336(20): 1401–1408
Struewing JP, Coriaty ZM, Ron E, Liroff A, Konichezky M, Cohen P, Resnick MB, Lifzchiz-Mercerl B, Lew S and Iscorich J (1999) Founder BRCA1/2 mutations among male patients with breast cancer in Israel (letter). Am J Hum Genet 65: 1800–1802
Szabo CI and King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4: 1811–1817
Vazina A, Baniel J, Yaacobi Y, Shtriker A, Engelstein D, Leibovitz I, Zehavi M and Friedman E (2000) The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Br J Cancer 83(4): 463–466
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Chen-Shtoyerman, R., Figer, A., Fidder, H. et al. The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients. Br J Cancer 84, 475–477 (2001). https://doi.org/10.1054/bjoc.2000.1598
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DOI: https://doi.org/10.1054/bjoc.2000.1598
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