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评估台湾地区乳腺癌女性患者中 2q35、3p24、17q23 和 FGFR2 基因上的乳腺癌易感性位点。

Evaluation of breast cancer susceptibility loci on 2q35, 3p24, 17q23 and FGFR2 genes in Taiwanese women with breast cancer.

机构信息

Department of Laboratory Medicine, Linkou Chang-Gung Memorial Hospital, 5 Fu-Hsin Street, Kweishan, Taoyuan 333, Taiwan, ROC.

出版信息

Anticancer Res. 2012 Feb;32(2):475-82.

Abstract

AIM

Breast cancer is the most common cancer in women. In recent years, mounting evidence has identified the possibility that 2q35, 3p24, 17q23 and fibroblast growth factor receptor 2 (FGFR2) may be genetic susceptibility loci for breast cancer. This study aimed to evaluate the association of four polymorphic genotypes in these loci with breast cancer in Taiwanese women.

PATIENTS AND METHODS

Eighty-eight patients with breast cancer and 70 controls without breast cancer were selected. Polymorphic variants of 2q35-rs13387042, 3p24-rs4973768, 17q23-rs650490 and FGFR2-rs2981578 were analyzed to test for their association with breast cancer susceptibility. The 2q35, 17q23 and FGFR2 polymorphisms were detected using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and the 3p24 polymorphism was detected using an amplification-created restriction site method.

RESULTS

The distribution of genotypes of 2q35 were significantly different between the breast cancer group and the control group (p=0.035), while the distributions for 3p24, 17q23, and FGFR2 did not produce statistically significant differences (p>0.05). In addition, allele A of 2q35 conferred a higher risk for breast cancer risk than allele G (odds ratio, OR=2.95, 95% confidence interval, CI=1.29-6.71, p=0.008). Furthermore, the genotypic distribution of 2q35 was not significantly different among patients with different tumor stages, or from different specimen type.

CONCLUSION

The 2q35 allele A may be a potential biomarker for breast cancer risk, but further confirmation is required to determine its role in breast carcinogenesis. Blood samples can be used for determining the genotypes for 2q35-rs13387042 in patients for risk of breast cancer.

摘要

目的

乳腺癌是女性最常见的癌症。近年来,越来越多的证据表明,2q35、3p24、17q23 和成纤维细胞生长因子受体 2(FGFR2)可能是乳腺癌的遗传易感性位点。本研究旨在评估这些位点的四个多态基因型与台湾女性乳腺癌的关系。

患者和方法

选择 88 例乳腺癌患者和 70 例无乳腺癌对照者。分析 2q35-rs13387042、3p24-rs4973768、17q23-rs650490 和 FGFR2-rs2981578 的多态性变体,以检测其与乳腺癌易感性的关系。2q35、17q23 和 FGFR2 多态性采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)检测,3p24 多态性采用扩增产生的限制位点法检测。

结果

乳腺癌组和对照组 2q35 基因型分布差异有统计学意义(p=0.035),3p24、17q23 和 FGFR2 分布差异无统计学意义(p>0.05)。此外,2q35 等位基因 A 比等位基因 G 赋予乳腺癌风险更高的风险(比值比,OR=2.95,95%置信区间,CI=1.29-6.71,p=0.008)。此外,2q35 基因型分布在不同肿瘤分期的患者之间或不同标本类型之间无显著差异。

结论

2q35 等位基因 A 可能是乳腺癌风险的潜在生物标志物,但需要进一步确证其在乳腺癌发生中的作用。可以使用血液样本确定 2q35-rs13387042 的基因型,以评估乳腺癌的风险。

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