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乳腺癌女性中的 FGFR2 基因突变。

FGFR2 genetic variants in women with breast cancer.

机构信息

Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Sciences, University of The Witwatersrand, Johannesburg 2193, South Africa.

School of Anatomical Sciences, Faculty of Health Sciences, University of The Witwatersrand, Johannesburg 2193, South Africa.

出版信息

Mol Med Rep. 2023 Dec;28(6). doi: 10.3892/mmr.2023.13113. Epub 2023 Oct 13.

Abstract

Black African populations are more genetically diverse than others, but genetic variants have been studied primarily in European populations. The present study examined the association of four single nucleotide polymorphisms (SNPs) of the fibroblast growth factor receptor 2, associated with breast cancer in non‑African populations, with breast cancer in Black, southern African women. Genomic DNA was extracted from whole blood samples of 1,001 patients with breast cancer and 1,006 controls (without breast cancer), and the rs2981582, rs35054928, rs2981578, and rs11200014 polymorphisms were analyzed using allele‑specific Kompetitive allele‑specific PCR™, and the χ or Fisher's exact tests were used to compare the genotype frequencies. There was no association between those SNPs and breast cancer in the studied cohort, although an association was identified between the C/C homozygote genotype for rs2981578 and invasive lobular carcinoma. These results show that genetic biomarkers of breast cancer risk in European populations are not necessarily associated with risk in sub‑Saharan African populations. African populations are more heterogenous than other populations, and the information from this population can help focus genetic risks of cancer in this understudied population.

摘要

黑人群体的遗传多样性比其他群体更高,但遗传变异主要在欧洲人群中进行了研究。本研究旨在探讨与非非洲人群乳腺癌相关的四个成纤维细胞生长因子受体 2 单核苷酸多态性(SNP)与南非黑人女性乳腺癌之间的关联。从 1001 名乳腺癌患者和 1006 名对照者(无乳腺癌)的全血样本中提取基因组 DNA,采用等位基因特异性 Kompetitive allele-specific PCR™ 分析 rs2981582、rs35054928、rs2981578 和 rs11200014 多态性,并采用 χ 检验或 Fisher 确切概率法比较基因型频率。在研究队列中,这些 SNP 与乳腺癌之间没有关联,但 rs2981578 的 C/C 纯合子基因型与浸润性小叶癌之间存在关联。这些结果表明,欧洲人群中乳腺癌风险的遗传生物标志物与撒哈拉以南非洲人群的风险不一定相关。非洲人群比其他人群更加多样化,该人群的信息可以帮助聚焦于这一研究不足的人群的癌症遗传风险。

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