The CYP17A1-34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

被引：3

作者：

Kaufman, Bella ^{[2
,3
]}

Laitman, Yael ^{[1
]}

Ziv, Elad ^{[4
]}

Hamann, Ute ^{[5
]}

Torres, Diana ^{[5
,6
]}

Lahad, Ephrat Levy ^{[7
]}

Beeri, Rachel ^{[7
]}

Renbaum, Paul ^{[7
]}

Jakubowska, Anna ^{[8
]}

Lubinski, Jan ^{[8
]}

Huzarski, Tomasz ^{[8
]}

Toloczko-Grabarek, Aleksandra ^{[8
]}

Jaworska, Katarzyna ^{[8
]}

Durda, Katarzyna ^{[8
]}

Sprudle, Amanda B. ^{[9
]}

Chenevix-Trench, Georgia ^{[10
]}

Simard, Jacques ^{[11
,12
,13
]}

Easton, Douglas F. ^{[14
]}

Antonis, Antoniou ^{[14
]}

Szabo, Csilla ^{[15
]}

Friedman, Eitan ^{[1
,3
]}

机构：

[1] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel

[2] Chaim Sheba Med Ctr, Inst Oncol, IL-52621 Tel Hashomer, Israel

[3] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[4] Univ Calif San Francisco, Dept Med, Ctr Comprehens Canc, San Francisco, CA USA

[5] Deutsch Krebsforschungszentrum DKFZ, D-69120 Heidelberg, Germany

[6] Pontificia Univ Javeriana, Inst Human Genet, Fac Med, Bogota, Colombia

[7] Sharre Zedek Med Ctr, Genet Inst, Jerusalem, Israel

[8] Pomeranian Med Univ, Dept Genet & Pathol, IHCC, PL-70115 Szczecin, Poland

[9] Queensland Inst Med Res, Genet & Populat Hlth Div, Brisbane, Qld 4006, Australia

[10] Royal Brisbane Hosp, Queensland Inst Med Res, Herston, Qld 4029, Australia

[11] Chaire Rech Canada Oncogenet, Ottawa, ON, Canada

[12] Univ Laval, Fac Med, Quebec City, PQ G1K 7P4, Canada

[13] CHUQ CHUL, Axe Endocrinol & Genom Ctr Rech, Quebec City, PQ, Canada

[14] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[15] Mayo Clin, Coll Med, Rochester, MN USA

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2011年 / 126卷 / 02期

关键词：

BRCA01/BRCA2; mutations; Breast cancer risk; CYP17; Penetrance modifier; Ovarian cancer risk; CYP17; GENETIC-POLYMORPHISM;

D O I：

10.1007/s10549-010-1123-5

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Exposure to estrogen has a major effect on breast cancer risk. A polymorphism (-34 T > C; rs743572) in the cytochrome P450c17alpha gene (CYP17A1) encoding an enzyme which controls estrogen levels was reportedly associated with breast cancer risk in average risk populations. The effect of this polymorphism on breast or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has not been thoroughly investigated. With this aim, 2,221 BRCA1 and BRCA2 mutation carriers (1,313 with breast cancer, 279 with ovarian cancer, and 695 asymptomatic carriers), with either BRCA1 (n = 1693) or BRCA2 (n = 528) germline mutations from seven centers were genotyped for the -34 T > C CYP17 polymorphism. Genotyping was accomplished using Taqman allelic discrimination, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) or PCR-based restriction-fragment length polymorphism analysis, and limited sequencing. Data were analyzed using Cox proportional hazards models. The hazard ratios (HRs) for breast cancer was 1.02 (95% CI 0.89-1.17, p = 0.74) and 1.10 (95% CI 0.72-1.67, p = 0.66) for BRCA1 and BRCA2 mutation carriers, respectively. The HRs for ovarian cancer were 1.17 (0.94-1.46, p = 0.17) and 0.91 (0.31-2.67, p = 0.86) for BRCA1 and BRCA2 mutation carriers, respectively. Results remained unaltered when the Israeli cohort (primarily Ashkenazim) was evaluated separately. In conclusion, there was no overall evidence for an association of the -34 T > C CYP17 polymorphism with either breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.

引用

页码：521 / 527

页数：7

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The CYP17A1-34T &gt; C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

The CYP17A1-34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers