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Updated: Jun 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between CYP19 polymorphisms and breast cancer risk: results from 10,592 cases and 11,720 controls
Xiangyu Ma1, Xiaowei Qi, Chunhai Chen
1Department of Epidemiology, Faculty of Preventive Medicine, Third Military Medical University, Gaotanyan Street 30, Chongqing, 400038, China.
Abstract:
The association of CYP19 gene polymorphisms with breast cancer has been widely reported, but results of previous studies were somewhat contradictory and underpowered. In order to overcome the limitations of individual study and to understand the real situation, we conducted a systematic review and meta-analysis including three CYP19 gene polymorphisms [R264C polymorphism, CYP19_630 3-bp del/Ins polymorphism, and CYP19_681 (TTTA)(n) polymorphisms]. A total of 22 studies with 10,592 cases and 11,720 controls were identified, and the results showed that R264C polymorphism was not associated with breast cancer risk in overall (T vs. C: OR = 1.061, 95% CI = 0.929-1.212) or race-based populations (T vs. C for Asian: OR = 1.169, 95% CI = 1.002-1.363; for Caucasian: OR = 0.787, 95% CI = 0.597-1.037); meanwhile, for Asian individuals, 3-bpDel/Ins polymorphism showed a significantly association with breast cancer susceptibility (for allele Del vs. allele Ins: OR = 1.278, 95% CI = 1.066-1.532) while the carriers of allele (TTTA)(12) can significantly decrease breast cancer risk (OR = 0.752, 95% CI = 0.603-0.939). Furthermore, the carriers of allele (TTTA)(10) were significantly associated with breast cancer susceptibility (OR = 1.515, 95% CI = 1.115-2.058). It can be concluded that potentially functional CYP19_630 3-bp del/Ins polymorphism and CYP19_681 (TTTA)(n) polymorphisms may play a low penetrance role in breast cancer susceptibility in an ethnicity-specific manner.
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