Abstract
DNA of oncological patients, including Ashkenazi Jews and Slavs, living in St. Petersburg was collected, and the resultant collection was screened for three common mutations of genes BRCA1andBRCA2by means of heteroduplex analysis. The mutation 5382insC in exon 20 of the BRCA1gene was found in four unrelated patients, including three Slavs and one Ashkenazi Jew, with a positive family history of breast cancer. The mutations 185delAG and 6174delT in the BRCA1and BRCA2genes, respectively, which are typical of Ashkenazi Jewish patients with breast cancer, were not found in the patients of either ethnicity living in St. Petersburg, although the 6174delT mutation was found in the control group of Ashkenazi Jews. A new 12-nucleotide duplication g.71741ins12nt found in intron 20 of the BRCA1gene was described. The high frequency of the 5382insC mutation in the BRCA1gene in patients with familial breast cancer in both St. Petersburg and Moscow indicates that Russian families with the history of breast cancer should be primarily tested for this mutation.
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REFERENCES
Miki, Y., Swensen, J., Shattuck-Eidens, D., et al., A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1, Science, 1994, vol. 266, pp. 66-71.
Wooster, R., Bignell, G., Lancaster, J., et al., Identification of the Breast Cancer Susceptibility Gene BRCA2, Nature, 1995, vol. 378, pp. 789-792.
Easton, D.F., Bishop, D.T., Ford, D., et al., Genetic Linkage Analysis in Familial Breast and Ovarian Cancer: Results from 214 Families, Am. J. Hum. Genet., 1993, vol. 52, pp. 678-801.
Fodor, F.H., Weston, A., Bleiweiss, I.J., et al., Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients, Am. J. Hum. Genet., 1998, vol. 63, no. 1, pp. 45-51.
Claus, E.B., Schildkraut, J.M., Thompson, W.D., and Risch, N.J., The Genetic Attributable Risk of Breast and Ovarian Cancer, Cancer, 1996, vol. 77, pp. 2318-2324.
Beller, U., Halle, D., Catane, R., et al., High Frequency of BRCA1 and BRCA2 Germline Mutations in Ashkenazi Jewish Ovarian Cancer Patients, Regardless of Family History, Gynecol. Oncol., 1997, vol. 67, no. 2, pp. 123-126.
Levy-Lahad, E., Catane, R., Eisenberg, Sh., et al., Founder BRCA1 and BRCA2 Mutations in Ashkenazi Jews in Israel: Frequency and Differential Penetrance in Ovarian Cancer and in Breast-Ovarian Families, Am. J. Hum. Genet., 1997, vol. 60, pp. 1059-1067.
Greenman, J., Mohammed, S., Ellis, D., et al., Identification of Missense and Truncating Mutations in the BRCA1 Gene in Sporadic and Familial Breast and Ovarian Cancer, Genes, Chromosomes and Cancer, 1998, vol. 21, pp. 244-249.
Gayther, S.A., Harrington, P., Russell, P., et al., Frequently Occurring Germ-Line Mutations of the BRCA1 Gene in Ovarian Cancer Families from Russia, Am. J. Hum. Genet., 1997, vol. 60, no. 5, pp. 1239-1242.
Neuhausen, S., Gilewski, T., Nortron, L., et al., Recurrent BRCA2 6174delT Mutations in Ashkenazi Jewish Women Affected by Breast Cancer, Nat. Genet., 1996, vol. 13, no. 1, pp. 126-128.
Oddoux, C., Struewing, J.P., Clayton, C.M., et al., The Carrier Frequency of the BRCA2 6174delT Mutation among Ashkenazi Jewish Individuals Is Approximately 1%, Nat. Genet., 1996, vol. 14, no. 2, pp. 188-190.
Roa, B.B., Boyd, A.A., Volcik, K., and Richards, C.S., Ashkenazi Jewish Population Frequencies for Common Mutation in BRCA1 and BRCA2, Nat. Genet., 1996, vol. 14, no. 2, pp. 185-187.
Mandelshtam, M.Ju., Chakir, Kh., Shevtsov, S.P., et al., Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia, Hum. Mutat., 1998, vol. 12, no. 4, pp. 255-258.
Ozcelik, H., Antebi, Y.J., Cole, D.E.S., and Andrulis, I.L., Heteroduplex and Protein Truncation Analysis of the BRCA1 185delAG Mutation, Hum. Genet., 1996, vol. 98, pp. 310-312.
Gayther, S.A., Harrington, P., Russell, P., et al., Rapid Detection of Regionally Clustered Germ-Line BRCA1 Mutations by Multiplex Heteroduplex Analysis, Am. J. Hum. Genet., 1996, vol. 58, pp. 451-456.
Mansukhani, M.M., Nastiuk, K.L., Hibshoosh, H., et al., Convenient, Nonradioactive, Heteroduplex-Based Methods for Identifying Recurrent Mutations in the BRCA1 and BRCA2 Genes, Diagnostic Mol. Pathol., 1997, vol. 6, no. 4, pp. 229-237.
Kunkel, L.M., Smith, K.D., Boyer, S.H., et al., Analysis of Human Y-Chromosome-Specific Reiterated DNA in Chromosome Variants, Proc. Natl. Acad. Sci. USA, 1977, vol. 74, pp. 1245-1249.
Bell, G.I., Karam, J.H., and Rutter, W.J., Polymorphic DNA Region Adjacent to the 5' End of the Human Insulin Gene, Proc. Natl. Acad. Sci. USA, 1981, vol. 78, pp. 5759-5763.
Maniatis, T., Fritsch, E.F., and Sambrook, J., Molecular Cloning: A Laboratory Manual, Cold Spring Harbor, New York: Cold Spring Harbor Lab., 1982.
Friedman, L.S., Ostermeyer, E.A., Szabo, C.I., et al., Conformation of BRCA1 by Analysis of Germline Mutations Linked to Breast and Ovarian Cancer in Ten Families, Nat. Genet., 1994, vol. 8, pp. 399-404.
Gorbunova, V.N. and Baranov, V.S., Vvedenie v DNKdiagnostiku i genoterapiyu nasledstvennykh boleznei (Introduction to DNA Diagnostics and Gene Therapy of Hereditary Disorders), Petersburg: Spetsial'naya Literatura, 1997.
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Mandelshtam, M.J., Golubkov, V.I., Lamber, E.P. et al. Search for Frequent Mutations in Genes Predisposing to Breast Cancer. Russian Journal of Genetics 37, 1415–1420 (2001). https://doi.org/10.1023/A:1013204214638
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DOI: https://doi.org/10.1023/A:1013204214638