Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing.

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY

Human Heredity Pub Date : 2019-01-01 Epub Date: 2020-02-26 DOI:10.1159/000505268

Heming Wu, Qiuming Wang, Xuemin Guo, Qinghua Liu, Qunji Zhang, Qingyan Huang, Zhikang Yu

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引用次数: 2

Abstract

Background: It is necessary to investigate the frequency of BRCA1 and BRCA2 mutations in Hakka populations due to the variations in breast cancer epidemiology and genetics.

Methods: 359 breast cancer patients and 66 ovarian cancer patients were included in this retrospective clinical study. Mutations of BRCA1 and BRCA2 were detected in blood samples by semiconductor sequencing.

Results: The sensitivity of tumor markers including CEA, CA15-3, CA12-5, and CA199 for screening breast cancer was 16.44, 15.11, 8.44, and 7.56%, the combination of these 4 tumor markers reached the highest sensitivity index (31.11%). For ovarian cancer, the tumor markers were CA12-5 (54.05%), HE-4 (54.05%), CA72-4 (51.35%), and CEA (2.70%) in order of decreasing sensitivity. Moreover, the combination of these 4 tumor markers has the best sensitivity (75.68%) for screening ovarian cancer. In breast cancer patients, we found 5 (1.39%) patients with mutations in BRCA1, 13 (3.62%) mutations in BRCA2, and the total carrier rate is 5.01% (18/359). For ovarian cancer patients, the corresponding results were 3 (4.54%) mutations, 2 (3.03%) mutations, and 7.58% (5/66), respectively. The proportion of BRCA mutations was 5.41% (23/425) in breast and ovarian cancer patients of a Hakka population. The pathogenic, likely pathogenic, and benign mutations, and mutations of uncertain significance in this study mainly occurred in exon 14 of the BRCA1 gene, and exon 10 and exon 11 of the BRCA2 gene.

Conclusions: Understanding the spectrum and frequency of BRCA1 and BRCA2 mutations in a Hakka population will assist in the prevention and control of hereditary breast and ovarian cancers in this population.

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利用下一代测序技术研究中国客家人乳腺癌和卵巢癌患者BRCA1和BRCA2突变频率

背景:由于客家人群乳腺癌流行病学和遗传学的差异，有必要研究客家人群BRCA1和BRCA2突变的频率。方法:对359例乳腺癌患者和66例卵巢癌患者进行回顾性临床研究。通过半导体测序检测血液样本中的BRCA1和BRCA2突变。结果:CEA、CA15-3、CA12-5、CA199 4种肿瘤标志物筛查乳腺癌的敏感性分别为16.44、15.11、8.44、7.56%，其中4种肿瘤标志物联合使用的敏感性指数最高(31.11%)。卵巢癌肿瘤标志物敏感度由高到低依次为CA12-5(54.05%)、HE-4(54.05%)、CA72-4(51.35%)、CEA(2.70%)。4种肿瘤标志物联合使用筛查卵巢癌的灵敏度最高(75.68%)。在乳腺癌患者中，我们发现BRCA1突变5例(1.39%)，BRCA2突变13例(3.62%)，总携带率为5.01%(18/359)。卵巢癌患者对应的结果分别为3例(4.54%)、2例(3.03%)和7.58%(5/66)。客家人乳腺癌和卵巢癌患者BRCA突变比例为5.41%(23/425)。本研究中致病性、可能致病性、良性以及意义不确定的突变主要发生在BRCA1基因的14外显子、BRCA2基因的10外显子和11外显子。结论:了解客家人群BRCA1和BRCA2突变的频谱和频率将有助于预防和控制该人群的遗传性乳腺癌和卵巢癌。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.