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三阴性乳腺癌的体细胞突变:黑人和白人女性之间的比较。

Somatic mutations of triple-negative breast cancer: a comparison between Black and White women.

机构信息

Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, 14263, USA.

Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

出版信息

Breast Cancer Res Treat. 2020 Jul;182(2):503-509. doi: 10.1007/s10549-020-05693-4. Epub 2020 May 21.

Abstract

PURPOSE

Understanding the contribution of tumor genome biology to racial disparities of triple-negative breast cancer (TNBC) is important for narrowing the cancer mortality gap between Black and White women.

METHODS

We evaluated tumor somatic mutations using targeted sequencing of a customized panel of 151 genes and 15 copy number variations (CNVs) within a population of 133 TNBC patients, including 71 Black and 62 White women.

RESULTS

The overall mutational burden between Black and White women with TNBC was not significantly different, with a median of 5 somatic changes per patient (point mutations and CNVs combined) for the customized panel (range 1-31 for Blacks vs. 1-26 for Whites; p = 0.76). Of the 151 genes examined, none were mutated at a significantly higher frequency in Black than in White cases, whereas two genes were mutated at a higher frequency in White cases-PIK3CA and NCOR1. No significant difference in the frequency of CNVs was observed between Black and White women with TNBC in our study population.

CONCLUSION

Of gene mutations and CNVs in TNBC tumors from Black and White women, only PIK3CA and NCOR1 had significantly different, although slight, frequencies by race. These results indicate that overall differences observed in the mutation spectra between Black and White women with breast cancer are likely due to the differential distributions of breast cancer subtypes by race.

摘要

目的

了解肿瘤基因组生物学对三阴性乳腺癌 (TNBC) 种族差异的贡献对于缩小黑人和白人女性之间的癌症死亡率差距至关重要。

方法

我们评估了 133 名 TNBC 患者群体中 151 个基因和 15 个拷贝数变异 (CNV) 的肿瘤体细胞突变,其中包括 71 名黑人女性和 62 名白人女性。

结果

黑人女性和白人女性的 TNBC 患者之间的总体突变负担没有显著差异,使用定制面板(包括点突变和 CNV)对每位患者的中位数为 5 个体细胞变化(133 名患者中有 1-31 个;黑人 1-26 个;p=0.76)。在检查的 151 个基因中,没有一个基因在黑人病例中的突变频率明显高于白人病例,而两个基因在白人病例中的突变频率更高-PIK3CA 和 NCOR1。在我们的研究人群中,黑人女性和白人女性的 TNBC 肿瘤中没有观察到 CNV 频率的显著差异。

结论

在黑人女性和白人女性的 TNBC 肿瘤中的基因突变和 CNV 中,只有 PIK3CA 和 NCOR1 的种族差异具有显著差异,尽管很小。这些结果表明,在乳腺癌黑人和白人女性之间的突变谱中观察到的总体差异可能归因于不同种族之间乳腺癌亚型的不同分布。

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