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

被引：115

作者：

Antoniou, AC

Pharoah, PDP

Narod, S

Risch, HA

Eyfjord, JE

Hopper, JL

Olsson, H

Johannsson, O

Borg, Å

Pasini, B

Radice, P

Manoukian, S

Eccles, DM

Tang, N

Olah, E

Anton-Culver, H

Warner, E

Lubinski, J

Gronwald, J

Gorski, B

Tulinius, H

Thorlacius, S

Eerola, H

Nevanlinna, H

Syrjäkoski, K

Kallioniemi, OP

Thompson, D

Evans, C

Peto, J

Lalloo, F

Evans, DG

Easton, DF

机构：

[1] Univ Cambridge, Dept Publ Hlth, Canc Res UK Genet Epidemiol Unit, Strangeways Res Lab, Cambridge CB1 8RN, England

[2] Univ Cambridge, Dept Oncol, Canc Res UK Human Canc Genet Grp, Cambridge CB2 1TN, England

[3] Univ Toronto, Ctr Res Womens Hlth, Toronto, ON, Canada

[4] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06510 USA

[5] Iceland Canc Soc, Reykjavik, Iceland

[6] Univ Iceland, Reykjavik, Iceland

[7] Univ Melbourne, Dept Publ Hlth, Ctr Genet Epidemiol, Melbourne, Vic, Australia

[8] Univ Lund Hosp, Jubileum Inst, Dept Oncol, S-22185 Lund, Sweden

[9] Natl Canc Inst, I-20133 Milan, Italy

[10] FIRC Inst Mol Oncol, Milan, Italy

[11] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[12] Chinese Univ Hong Kong, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

[13] Natl Inst Oncol, Budapest, Hungary

[14] Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA 92717 USA

[15] Pomeranian Acad Med, Dept Genet & Pathol, Hereditary Canc Ctr, Szczecin, Poland

[16] Univ Helsinki, Cent Hosp, Dept Obstet, Helsinki, Finland

[17] Univ Helsinki, Cent Hosp, Dept Gynaecol, Helsinki, Finland

[18] Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland

[19] Tampere Univ, Inst Med Technol, Canc Genet Lab, FIN-33101 Tampere, Finland

[20] Tampere Univ Hosp, Tampere, Finland

[21] Inst Canc Res, Epidemiol Sect, Surrey, England

[22] St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England

[23] St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 07期

关键词：

D O I：

10.1136/jmg.2004.024133

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：602 / 603

页数：2

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