BRCA1/2 基因突变携带与乳腺癌妇女临床病理特征之间的关系--土耳其一家诊断中心的经验。

IF 0.7 4区医学 Q4 PATHOLOGY Polish Journal of Pathology Pub Date : 2024-01-01 DOI:10.5114/pjp.2024.142750

Neslihan Duzkale, Onur Can Guler, Suat Kutun, Canan Emiroglu, Serdar Saridemir, Aysun Gokce, Olcay Kandemir, Tugba Taskın Turkmenoglu, Serap Yorubulut, Bahadır Kulah

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引用次数: 0

摘要

5%-10%的乳腺癌（BC）具有遗传性，其中25%的遗传性乳腺癌是由BRCA1/2引起的。本研究旨在探讨 BRCA1/2 基因型与 BC 表型之间的关系。研究使用新一代测序技术对170名女性乳腺癌患者的BRCA1/2基因进行了检测。分析了患者的人口统计学和临床病理学特征，以及血统分析与 BRCA1/2 基因突变状态的相关性。结果发现，BRCA1/2携带率为9.4%。根据 BC 诊断时的年龄将患者分为≤40 岁和大于 40 岁两组，≤40 岁组的肿瘤分级更高。在该研究中，三阴性乳腺癌（TNBC）患者的BRCA1/2携带率和肿瘤等级更高。BRCA1/2携带者患TNBC的风险是非携带者的5.560倍。BRCA1/2携带者与BC激素受体阴性、肿瘤分级和BC诊断年龄之间存在明显关系。

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The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer - experience from a diagnostic centre in Turkey.

The 5-10% of breast cancers (BC) are hereditary, and BRCA1/2 are causative in 25% of those inherited. It was aimed to examine the BRCA1/2 genotype-BC phenotype relationship. In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed. BRCA1/2 carriage was found to be 9.4%. When the patients were grouped as ≤ 40 and > 40 according to the age at diagnosis of BC, the tumour grade was higher in the ≤ 40 groups. In the study, BRCA1/2 carriage and tumour grade were higher in patients with triple-negative breast cancers (TNBC). The risk of TNBC was 5.560 times higher in BRCA1/2 carriers than in non-carriers. There is a significant relationship between BRCA1/2 carrier and BC hormone receptor negativity, tumour grade, and BC diagnosis age.

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来源期刊

Polish Journal of Pathology PATHOLOGY-

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Polish Journal of Pathology is an official magazine of the Polish Association of Pathologists and the Polish Branch of the International Academy of Pathology. For the last 18 years of its presence on the market it has published more than 360 original papers and scientific reports, often quoted in reviewed foreign magazines. A new extended Scientific Board of the quarterly magazine comprises people with recognised achievements in pathomorphology and biology, including molecular biology and cytogenetics, as well as clinical oncology. Polish scientists who are working abroad and are international authorities have also been invited. Apart from presenting scientific reports, the magazine will also play a didactic and training role.