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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Antoniou, A.C., Pharoah, P.D., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Olsson, H., Johannsson, O., Borg, A., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Nton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjakoski, K., Kallioniemi, O.P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G. and Easton, D.F. (2005) Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies Journal of Medical Genetics, 42, (7), pp. 602-603. (doi:10.1136/jmg.2004.024133).

Record type: Article


A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.

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Published date: 2005
Keywords: BRCA1/2 penetrance, meta-analysis, founder mutation, Ashkenazi


Local EPrints ID: 26194
ISSN: 0022-2593
PURE UUID: c40c2122-4760-4306-be77-f32b7cdc211b

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Date deposited: 20 Apr 2006
Last modified: 17 Jul 2017 16:08

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Author: A.C. Antoniou
Author: P.D. Pharoah
Author: S. Narod
Author: H.A. Risch
Author: J.E. Eyfjord
Author: J.L. Hopper
Author: H. Olsson
Author: O. Johannsson
Author: A. Borg
Author: B. Pasini
Author: P. Radice
Author: S. Manoukian
Author: D.M. Eccles
Author: N. Tang
Author: E. Olah
Author: H. Nton-Culver
Author: E. Warner
Author: J. Lubinski
Author: J. Gronwald
Author: B. Gorski
Author: H. Tulinius
Author: S. Thorlacius
Author: H. Eerola
Author: H. Nevanlinna
Author: K. Syrjakoski
Author: O.P. Kallioniemi
Author: D. Thompson
Author: C. Evans
Author: J. Peto
Author: F. Lalloo
Author: D.G. Evans
Author: D.F. Easton

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