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1
Update on triple-negative breast cancer disparities for the United States: A population-based study from the United States Cancer Statistics database, 2010 through 2014.美国三阴性乳腺癌差异的最新研究:基于美国癌症统计数据库的 2010 年至 2014 年的人群研究。
Cancer. 2019 Oct 1;125(19):3412-3417. doi: 10.1002/cncr.32207. Epub 2019 Jul 8.
2
Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers.跨癌种的遗传祖源与基因组改变的综合分析。
Cancer Cell. 2018 Oct 8;34(4):549-560.e9. doi: 10.1016/j.ccell.2018.08.019.
3
Race Disparities in the Contribution of miRNA Isoforms and tRNA-Derived Fragments to Triple-Negative Breast Cancer.miRNA 异构体和 tRNA 衍生片段对三阴性乳腺癌的贡献存在种族差异。
Cancer Res. 2018 Mar 1;78(5):1140-1154. doi: 10.1158/0008-5472.CAN-17-1947. Epub 2017 Dec 11.
4
Breast cancer statistics, 2017, racial disparity in mortality by state.乳腺癌统计数据,2017 年,按州划分的死亡率种族差异。
CA Cancer J Clin. 2017 Nov;67(6):439-448. doi: 10.3322/caac.21412. Epub 2017 Oct 3.
5
Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.《癌症基因组图谱》中非洲裔和欧洲裔人群乳腺癌分子特征与生存的比较。
JAMA Oncol. 2017 Dec 1;3(12):1654-1662. doi: 10.1001/jamaoncol.2017.0595.
6
Health Disparities and Triple-Negative Breast Cancer in African American Women: A Review.非裔美国女性的健康差异与三阴性乳腺癌:综述。
JAMA Surg. 2017 May 1;152(5):485-493. doi: 10.1001/jamasurg.2017.0005.
7
Differences in the mutational landscape of triple-negative breast cancer in African Americans and Caucasians.非裔美国人和高加索人三阴性乳腺癌突变图谱的差异。
Breast Cancer Res Treat. 2017 Feb;161(3):491-499. doi: 10.1007/s10549-016-4062-y. Epub 2016 Dec 3.
8
Comparison of the Genomic Landscape Between Primary Breast Cancer in African American Versus White Women and the Association of Racial Differences With Tumor Recurrence.非裔美国女性与白人女性原发性乳腺癌的基因组格局比较以及种族差异与肿瘤复发的关联
J Clin Oncol. 2015 Nov 1;33(31):3621-7. doi: 10.1200/JCO.2015.62.2126. Epub 2015 Sep 14.
9
Racial and Ethnic Differences in Breast Cancer Survival: Mediating Effect of Tumor Characteristics and Sociodemographic and Treatment Factors.乳腺癌生存中的种族和民族差异:肿瘤特征、社会人口统计学及治疗因素的中介作用
J Clin Oncol. 2015 Jul 10;33(20):2254-61. doi: 10.1200/JCO.2014.57.1349. Epub 2015 May 11.
10
Annual Report to the Nation on the Status of Cancer, 1975-2011, Featuring Incidence of Breast Cancer Subtypes by Race/Ethnicity, Poverty, and State.《1975 - 2011年美国癌症现状年度报告:按种族/族裔、贫困状况及州划分的乳腺癌亚型发病率》
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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.

DOI:10.1007/s10549-020-05693-4
PMID:32441016
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313393/
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。