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), 602-603. (doi:10.1136/jmg.2004.024133).

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Original Publication URL: http://dx.doi.org/10.1136/jmg.2004.024133

Description/Abstract

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.

Item Type: Article
Related URLs:
Keywords: BRCA1/2 penetrance, meta-analysis, founder mutation, Ashkenazi
Subjects: R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Q Science > QH Natural history > QH426 Genetics
R Medicine > RA Public aspects of medicine
Divisions: University Structure - Pre August 2011 > School of Medicine > Cancer Sciences
ePrint ID: 26194
Date Deposited: 20 Apr 2006
Last Modified: 27 Mar 2014 18:15
Contact Email Address: doug.easton@srl.cam.ac.uk
URI: http://eprints.soton.ac.uk/id/eprint/26194

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