Background: Conditions associated withBRCA1/2pathogenic (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. Materials and Methods: 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 IlluminaBRCAPanel was used to evaluate germline variants in theBRCA1andBRCA2genes in patients with BC. The χ2test and Fisher’s exact test were used to compare the different parameters studied. Results: Our findings revealed that 15.5% of the patients carried eitherBRCA1orBRCA2PVs or LPVs.BRCA1carriers had aggressive tumors whereasBRCA2carriers had rather low-grade tumors. Conclusions: The study revealed that PVs in both BRCA genes have a significant frequency among BC patients in our region, andBRCA1carriers tend to develop more aggressive tumors than carriers ofBRCA2PVs 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.
背景：携带BRCA1/2致病性变异（PVs）或可能致病性变异（LPVs）相关疾病通常较为严重。早期检测携带者状态是理想选择，因为它为有效的病例管理提供了选择方案。材料与方法：本研究纳入了58名有个人及家族乳腺癌病史的患者，这些患者在三年期间于多尔日地区医学遗传学中心接受了基因检测。采用免疫组化检测组合（HER2、ER、PR和Ki-67）定义乳腺肿瘤的分子亚型。使用Illumina BRCA Panel AmpliSeq技术评估乳腺癌患者BRCA1和BRCA2基因的种系变异。采用χ2检验和Fisher精确检验比较研究中的不同参数。结果：我们的研究结果显示，15.5%的患者携带BRCA1或BRCA2的PVs或LPVs。BRCA1携带者具有侵袭性肿瘤，而BRCA2携带者则多为低级别肿瘤。结论：研究表明，在本地区乳腺癌患者中，两种BRCA基因的致病性变异具有显著发生率，且BRCA1携带者比BRCA2致病性变异携带者以及两个基因均无种系致病性变异的患者更易发生侵袭性肿瘤。这些观察结果可为本地区该疾病提供新的流行病学数据，并进一步促进国家筛查策略的制定。
Clinically SignificantBRCA1andBRCA2Germline Variants in Breast Cancer—A Single-Center Experience
肿瘤(癌症)患者之家