更年期状态影响乳腺癌的预后和后果。因此,这项回顾性研究旨在揭示乳腺癌患者根据其绝经状态的分子变异谱差异,假设分子变异谱在绝经前和绝经后年龄会有所不同。回顾性评估2018年至2022年间接受分子亚型分型和QIAseq人类乳腺癌NGS小组筛查的乳腺癌患者(n=254)。他们的绝经状态是由年龄来定义的,50岁及以上的人被认为是绝经后。在主题中,58.66%(n=149)绝经前,41.34%(n=105)绝经后。所有患者诊断时的平均年龄为49.31±11.19岁,绝经前和绝经后分别为42.11±5.51和59.54±9.01年,分别为(p=0.000)。在绝经前患者中,BCa亚型患者的百分比(管腔A,管腔B-HER2(-),管腔B-HER2(+),HER2阳性,和三阴性)被确定为34.90%,8.05%,26.17%,10.74%,和20.13%,分别,而在绝经后的组,这些值是39.05%,16.19%,24.76%,6.67%,和13.33%,分别为(p>0.05)。考虑到更年期状态,绝经前患者激素受体分布为ER(+)/PgR(+)63.76%,ER(-)/PgR(-)23.49%,ER(+)/PgR(-)10.74%,和ER(-)/PgR(+)2.01%,分别,而在绝经后的女性中,这一分布观察到74.29%,23.81%,1.90%和0.00%的顺序相同(p=0.008)。130例患者中最常见的突变基因是TP53(51.18%),其次是PIK3CA85例(33.46%),BRCA2和NF1在56例患者中(22.05%),PTEN患者54例(21.26%),53例患者中ATR和CHEK2(20.87%)。TP53,PIK3CA,NF1,BRCA2,PTEN,CHEK2突变在绝经前患者中更常见,而TP53,PIK3CA,绝经后患者的BRCA2、BRCA1和ATR突变。这些发现有助于更深入地了解绝经状态下乳腺癌的根本原因。这项研究是土耳其首次根据绝经状态反映乳腺癌患者的分子亚型和体细胞突变谱的研究。
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 (n = 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% (n = 149) were premenopausal and 41.34% (n = 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 (p = 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 (p > 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 (p = 0.008). The most frequently mutated gene was TP53 in 130 patients (51.18%), followed by PIK3CA in 85 patients (33.46%), BRCA2 and NF1 in 56 patients (22.05%), PTEN in 54 patients (21.26%), and ATR and CHEK2 in 53 patients (20.87%). TP53, PIK3CA, NF1, BRCA2, PTEN, and CHEK2 mutations were more frequently observed in premenopausal patients, while TP53, PIK3CA, BRCA2, BRCA1, and ATR 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.