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绝经前和绝经后乳腺癌病例的变异分析。

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.

作者信息

Erdogdu Ibrahim Halil, Orenay-Boyacioglu Seda, Boyacioglu Olcay, Gurel Duygu, Akdeniz Nurten, Meteoglu Ibrahim

机构信息

Department of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, 09010 Aydin, Turkey.

Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, 09010 Aydin, Turkey.

出版信息

J Pers Med. 2024 Apr 20;14(4):434. doi: 10.3390/jpm14040434.

Abstract

Menopausal status affects the prognoses and consequences of breast cancer. Therefore, this retrospective study aimed to reveal the molecular variation profile differences in breast cancer patients according to their menopausal status, with the hypothesis that the molecular variation profiles will be different at premenopausal and postmenopausal ages. Breast cancer patients ( = 254) who underwent molecular subtyping and QIAseq Human Breast Cancer NGS Panel screening between 2018 and 2022 were evaluated retrospectively. Their menopausal status was defined by age, and those aged 50 years and above were considered postmenopausal. Of the subjects, 58.66% ( = 149) were premenopausal and 41.34% ( = 105) were postmenopausal. The mean age at the time of diagnosis for all patients was 49.31 ± 11.19 years, with respective values of 42.11 ± 5.51 and 59.54 ± 9.01 years for the premenopausal and postmenopausal groups, respectively ( = 0.000). Among premenopausal patients, the percentages of patients in BCa subtypes (luminal A, luminal B-HER2(-), luminal B-HER2(+), HER2 positive, and triple-negative) were determined to be 34.90%, 8.05%, 26.17%, 10.74%, and 20.13%, respectively, while in the postmenopausal group, these values were 39.05%, 16.19%, 24.76%, 6.67%, and 13.33%, respectively ( > 0.05). Considering menopausal status, the distribution of hormone receptors in premenopausal patients was ER(+)/PgR(+) 63.76%, ER(-)/PgR(-) 23.49%, ER(+)/PgR(-) 10.74%, and ER(-)/PgR(+) 2.01%, respectively, while in postmenopausal women, this distribution was observed to be 74.29%, 23.81%, 1.90% and 0.00% in the same order ( = 0.008). The most frequently mutated gene was in 130 patients (51.18%), followed by in 85 patients (33.46%), and in 56 patients (22.05%), in 54 patients (21.26%), and and in 53 patients (20.87%). , and mutations were more frequently observed in premenopausal patients, while and mutations in postmenopausal patients. These findings contribute to a deeper understanding of the underlying causes of breast cancer with respect to menopausal status. This study is the first from Turkey that reflects the molecular subtyping and somatic mutation profiles of breast cancer patients according to menopausal status.

摘要

绝经状态会影响乳腺癌的预后和后果。因此,这项回顾性研究旨在揭示根据绝经状态划分的乳腺癌患者的分子变异谱差异,其假设是绝经前和绝经后的分子变异谱会有所不同。对2018年至2022年间接受分子亚型分型和QIAseq人类乳腺癌二代测序面板筛查的254例乳腺癌患者进行了回顾性评估。她们的绝经状态根据年龄定义,50岁及以上的患者被视为绝经后。在这些受试者中,58.66%(149例)为绝经前,41.34%(105例)为绝经后。所有患者诊断时的平均年龄为49.31±11.19岁,绝经前组和绝经后组的相应年龄分别为42.11±5.51岁和59.54±9.01岁(P = 0.000)。在绝经前患者中,乳腺癌各亚型(腔面A型、腔面B-HER2阴性、腔面B-HER2阳性、HER2阳性和三阴性)的患者百分比分别确定为34.90%、8.05%、26.17%、10.74%和20.13%,而在绝经后组中,这些值分别为39.05%、16.19%、24.76%、6.67%和13.33%(P>0.05)。考虑绝经状态,绝经前患者激素受体的分布分别为ER(+)/PgR(+) 63.76%、ER(-)/PgR(-) 23.49%、ER(+)/PgR(-) 10.74%和ER(-)/PgR(+) 2.01%,而在绝经后女性中,相同顺序的分布分别为74.29%、23.81%、1.90%和0.00%(P = 0.008)。最常发生突变的基因在130例患者(51.18%)中为[基因名称未给出],其次是85例患者(33.46%)中的[基因名称未给出],56例患者(22.05%)中的[基因名称未给出]和[基因名称未给出],54例患者(21.26%)中的[基因名称未给出],以及53例患者(20.87%)中的[基因名称未给出]和[基因名称未给出]。[基因名称未给出]、[基因名称未给出]和[基因名称未给出]突变在绝经前患者中更常出现,而[基因名称未给出]和[基因名称未给出]突变在绝经后患者中更常出现。这些发现有助于更深入地了解绝经状态下乳腺癌的潜在病因。本研究是土耳其第一项根据绝经状态反映乳腺癌患者分子亚型分型和体细胞突变谱的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc0d/11051104/5f8c0a38bf8a/jpm-14-00434-g001.jpg

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