Department of Medical Genetic, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Department of Surgical Oncology, Ankara Dr Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey.
Pol J Pathol. 2024;75(3):192-204. doi: 10.5114/pjp.2024.142750.
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.
5-10%的乳腺癌是遗传性的，其中 25%是由 BRCA1/2 引起的。本研究旨在探讨 BRCA1/2 基因型与乳腺癌表型的关系。对 170 例乳腺癌女性患者进行了下一代测序，以研究 BRCA1/2 基因。分析了患者的人口统计学和临床病理特征，以及家系分析与 BRCA1/2 突变状态的相关性。发现 BRCA1/2 携带率为 9.4%。当根据乳腺癌诊断年龄将患者分为≤40 岁和>40 岁两组时，≤40 岁组的肿瘤分级更高。在本研究中，BRCA1/2 携带者和三阴性乳腺癌（TNBC）患者的肿瘤分级更高。BRCA1/2 携带者发生 TNBC 的风险是非携带者的 5.560 倍。BRCA1/2 携带者与乳腺癌激素受体阴性、肿瘤分级和乳腺癌诊断年龄之间存在显著关系。
