PDF(Pubmed)
Abstract：
Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individuals were enrolled in the study, leading to the identification of 128 cases of germline mutations. The implementation of the NCCP led to the identification of genetic mutations in 4.43% of the patients qualified for BRCA1 and BRCA2 screening tests, in 18.18% of those qualified for a comprehensive next-generation sequencing (NGS) panel in cases of breast and ovarian cancer, and in 17.36% of cases of colorectal and endometrial cancer. The research conducted allowed us to establish individualized preventive and therapeutic approaches for mutation carriers. However, the results prove that liberalizing the inclusion criteria for high-throughput diagnostics and the use of broad gene panels could significantly increase the percentage of detected carriers. This publication serves as a summary and discussion of the results obtained from the implementation of the NCCP as well as of the role of genetic consulting in personalized medicine.
摘要：
在46个月的时间里，国家癌症控制计划(NCCP，波尔。Narodowy计划ZwalczaniaChoróbNowotworowych)，由卫生部协调，通过对患有癌症高风险的个体进行基因诊断来追求。共有1097人参加了这项研究，导致128例种系突变的鉴定。NCCP的实施导致4.43％的符合BRCA1和BRCA2筛查测试资格的患者中的基因突变得到鉴定，在乳腺癌和卵巢癌病例中，有18.18%的人有资格获得全面的下一代测序（NGS）小组，在结直肠癌和子宫内膜癌的病例中占17.36％。进行的研究使我们能够为突变携带者建立个性化的预防和治疗方法。然而,结果证明,放宽高通量诊断的纳入标准和广泛基因面板的使用可以显著提高检测到的携带者百分比.本出版物是对实施NCCP所获得的结果以及遗传咨询在个性化医疗中的作用的总结和讨论。
