Pleșea Răzvan Mihail, Riza Anca-Lelia, Ahmet Ana Maria, Gavrilă Ionuț, Mituț Andreea, Camen Georgiana-Cristiana, Lungulescu Cristian Virgil, Dorobanțu Ștefania, Barbu Adina, Grigorescu Andra, Mirea Cecil Sorin, Schenker Michael, Burada Florin, Streață Ioana
Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Cancers (Basel). 2024 Dec 26;17(1):39. doi: 10.3390/cancers17010039.
Conditions associated with pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management.
The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period. An immunohistochemical panel (HER2, ER, PR, and Ki-67) was used to define the molecular subtypes of breast tumors. The AmpliSeq for Illumina Panel was used to evaluate germline variants in the and genes in patients with BC. The χ test and Fisher's exact test were used to compare the different parameters studied.
Our findings revealed that 15.5% of the patients carried either or PVs or LPVs. carriers had aggressive tumors whereas carriers had rather low-grade tumors.
The study revealed that PVs in both BRCA genes have a significant frequency among BC patients in our region, and carriers tend to develop more aggressive tumors than carriers of PVs and patients with no germline PVs in either of the two genes. These observations could provide new epidemiologic data for this disease in our region and contribute further to the development of national screening strategies.
与致病性（PVs）或可能致病性变异（LPVs）相关的疾病通常较为严重。早期检测携带者状态是理想的，因为它为有效的病例管理提供了选择。
该研究纳入了58例有乳腺癌（BC）个人和家族史的患者，他们在三年时间里于多尔日地区医学遗传学中心接受了基因检测。使用免疫组织化学检测组合（HER2、ER、PR和Ki-67）来定义乳腺肿瘤的分子亚型。使用Illumina的AmpliSeq检测组合来评估BC患者中 和 基因的种系变异。使用χ检验和Fisher精确检验来比较所研究的不同参数。
我们的研究结果显示，15.5%的患者携带 或 的PVs或LPVs。 基因携带者有侵袭性肿瘤，而 基因携带者有级别相对较低的肿瘤。
该研究表明，在我们地区的BC患者中，两个BRCA基因中的PVs出现频率较高，并且 基因携带者比 基因PVs携带者和两个基因中均无种系PVs的患者更容易发生侵袭性肿瘤。这些观察结果可为我们地区该疾病提供新的流行病学数据，并进一步推动国家筛查策略的发展。
