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TP63 基因多态性 rs17506395 与喀麦隆的早期乳腺癌相关。

The TP63 Gene Polymorphism rs17506395 is Associated with Early Breast Cancer in Cameroon.

机构信息

Molecular Parasitology & Entomology Unit, Department of Biochemistry, Faculty of Science, University of Dschang, Dschang, Cameroun.

Medical Oncology, Direction of the Bonassama District Hospital, Douala, Cameroon.

出版信息

Asian Pac J Cancer Prev. 2020 Aug 1;21(8):2199-2208. doi: 10.31557/APJCP.2020.21.8.2199.

Abstract

BACKGROUND

Breast cancer (BC) is a leading female cancer worldwide and cause of cancer-related death, especially in developing countries. Genetic predispositions to BC development in African population is poorly studied, and meanwhile the SNP rs17506395 in TP63 gene locus has been associated with the development of breast cancer in Asian women, no investigation has been undertaken within African population. We investigated the impact of this polymorphism in a representative African population.

METHODS

We undertook a case-control study including 335 women, of which 111 were breast cancer patients and 224 controls. Using blood-derived germline DNA, PCR-RFLP was used to investigate the polymorphism of TP63 gene at rs17506395 locus. Unconditional logistic regression was used to study the association between the TP63 gene polymorphism and risk of BC development. After stratification into different age and ethno-linguistic groups as well as menopausal status, the Cochran-Mantel-Haenszel test was used to measure significance of the associations.

RESULTS

Comparing cases with controls, no significant associations between genotype and disease development was observed. Similarly, when cases were stratified according to menopausal status and ethno-linguistic groups, no significant association was observed between genotype and disease development. However, in women of 40 years and below, TT and TG genotypes were associated with breast cancer development. The minor G allele seems to protective against early breast cancer onset OR of 0.5 (95%CI = 0.26-0.94, p = 0.03).

CONCLUSION

Our data revealed an association between rs15706395 and the risk of early breast cancer onset. The GG genotype seems to reduce the risk of early breast cancer. Larger studies are needed to confirm the potential of this SNP as biomarker for breast cancer prognostic.
.

摘要

背景

乳腺癌(BC)是全球女性中最常见的癌症,也是癌症相关死亡的主要原因,尤其是在发展中国家。非洲人群中乳腺癌发生的遗传易感性研究甚少,同时,TP63 基因座的 SNP rs17506395 已被证明与亚洲女性乳腺癌的发生有关,但尚未在非洲人群中进行过研究。我们在一个有代表性的非洲人群中调查了这种多态性的影响。

方法

我们进行了一项病例对照研究,包括 335 名女性,其中 111 名是乳腺癌患者,224 名是对照。使用血液衍生的种系 DNA,PCR-RFLP 用于调查 TP63 基因 rs17506395 位点的多态性。使用非条件逻辑回归研究 TP63 基因多态性与乳腺癌发展风险之间的关联。在按年龄和种族-语言群体以及绝经状态分层后,使用 Cochran-Mantel-Haenszel 检验来测量关联的显著性。

结果

与对照组相比,基因型与疾病发展之间没有显著关联。同样,当根据绝经状态和种族-语言群体对病例进行分层时,基因型与疾病发展之间也没有显著关联。然而,在 40 岁及以下的女性中,TT 和 TG 基因型与乳腺癌的发生有关。较小的 G 等位基因似乎对早期乳腺癌发病有保护作用,OR 为 0.5(95%CI=0.26-0.94,p=0.03)。

结论

我们的数据显示 rs15706395 与早期乳腺癌发病风险之间存在关联。GG 基因型似乎降低了早期乳腺癌的风险。需要更大的研究来证实这个 SNP 作为乳腺癌预后生物标志物的潜力。

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Genomic analysis of racial differences in triple negative breast cancer.三阴性乳腺癌中种族差异的基因组分析。
Genomics. 2019 Dec;111(6):1529-1542. doi: 10.1016/j.ygeno.2018.10.010. Epub 2018 Oct 23.
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