Summary
We screened the 185delAG and 5382insC (BRCA1) and the 6174delT (BRCA2) mutation in 298 Spanish women with breast cancer. Two women (one with Sephardic ancestors) presented the 185delAG mutation and the same haplotype reported in Ashkenazim with this mutation. This suggests a common origin of the 185delAG in both Sephardic and Ashkenazi populations.
Similar content being viewed by others
Article PDF
Change history
16 November 2011
This paper was modified 12 months after initial publication to switch to Creative Commons licence terms, as noted at publication
References
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., Ben-Baruch, G. & Friedman, E. (1998). The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet 5: 801–805.
Berman, D. B., Costalas, J., Schultz, D. C., Grana, G., Daly, M. & Godwin, A. K. (1996a). A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Ashkenazi and non-Jewish individuals. Cancer Res 56: 3409–3414.
Berman, D. B., Wagner-Costalas, J., Schultz, D. C., Lynch, H. T., Daly, M. & Godwin, A. K. (1996b). Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet, 1996; 58: 1166–1176.
Keller, W., (ed) (1969). The History of Jewish People, Barcelona, Omega
Neuhausen, S. L., Mazoyer, S., Friedman, L., Stratton, M., Offit, K., Caligo, A., Tomlinson, G., Cannon-Albright, L., Bishop, T., Kelsell, D., Solomon, E., Weber, B., Couch, F., Struewing, J., Tonin, P., Durocher, F., Narod, S., Skolnick, M. H., Lenoir, G., Serova, O., Ponder, B., Stoppa-Lyonnet, D., Easton, D., King, M. C. & Goldgar, D. E. (1996). Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58: 271–280.
Osorio, A., Robledo, M., Albertos, J., Díez, O., Alonso, M. C., Baiget, M. & Benítez, J. (1998). Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. Cancer Lett 123: 153–158.
Roa, B. B., Boyd, A. A., Volcik, K. & Richards, C. S. (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14: 185–187.
Struewing, J. P., Abeliovich, D., Peretz, T., Avishai, N., Kabak, M. M., Collins, F. S. & Brody, L. C. (1995). The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11: 198–200.
Tonin, P., Serova, O., Lenoir, G., Lynch, H., Durocher, F., Simard, J., Morgan, K. & Narod, S. (1995). BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57: 189
Xu, C. F., Chambers, J. A., Nicolai, H., Brown, M. A., Hujeirat, Y., Mohammed, S., Hodgson, S., Kelsell, D. P., Spurr, N. K., Bishop, D. T. & Solomon, E. (1997). Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chrom & Cancer 18: 102–110.
Author information
Authors and Affiliations
Rights and permissions
From twelve months after its original publication, this work is licensed under the Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
About this article
Cite this article
Díez, O., Osorio, A., Robledo, M. et al. Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer 79, 1302–1303 (1999). https://doi.org/10.1038/sj.bjc.6690208
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/sj.bjc.6690208
Keywords
This article is cited by
-
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations
European Journal of Human Genetics (2013)
-
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
EPMA Journal (2010)
-
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
Familial Cancer (2010)
-
Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1
Breast Cancer Research and Treatment (2008)
-
Genetic testing for cancer susceptibility: the promise and the pitfalls
Nature Reviews Cancer (2004)
