Vanags Andrejs, Strumfa Ilze, Gardovskis Andris, Borošenko Viktors, Aboliņš Arnis, Teibe Uldis, Trofimovičs Genadijs, Miklaševičs Edvīns, Gardovskis Jānis
Hereditary Cancer Institute, Rīga Stradiņš University, Dzirciema Street 16, LV 1007, Riga, Latvia.
Hered Cancer Clin Pract. 2010 Oct 29;8(1):8. doi: 10.1186/1897-4287-8-8.
The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test the outcome of population screening in the scientific and practical evaluation of hereditary cancer.
Population screening for hereditary cancer was carried out retrospectively in a geographic area of Latvia. Family cancer histories were collected from 18642 adults representing 76.6% of the population of this area. Hereditary cancer syndromes were diagnosed clinically. Molecular testing for BRCA1 founder mutations 300 T/G, 4153delA and 5382insC was conducted in 588 persons who reported at least one case of breast or ovary cancer among blood relatives.
Clinically, 74 (0.40%; 95% confidence interval (CI): 0.32 - 0.50%) high-risk and 548 (2.94%, 95% CI: 2.71 - 3.19) moderate-risk hereditary cancer syndromes were detected covering wide cancer spectrum. All syndromes were characterised by high cancer frequency among blood relatives ranging 8.6 - 46.2% in contrast to spouse correlation of 2.5 - 3.6%. The mean age of cancer onset ranged 38.0 - 72.0 years in different syndromes. The BRCA1 gene mutations were identified in 10 (1.7%; 95% CI: 0.9 - 3.1%) probands. Families with established BRCA1 gene founder mutations were identified with the frequency 1:2663 clinically screened persons.
Population screening is a useful practical tool for the identification of persons belonging to families with high frequency of malignant tumours. The whole hereditary and familial cancer spectrum along with the age structure was identified adjusting follow-up guidelines. Another benefit of the population screening is the possibility to identify oncologically healthy persons belonging to hereditary and familial cancer families so that appropriate surveillance can be offered. Clinical diagnostics is appropriate for population screening purposes; molecular investigation provides additional information. In collaboration with family doctors, the screening is technically manageable as characterised by high compliance.
癌症预防和治疗的可能性不断增加，以及对遗传性癌症的认识不断提高，这就需要正确识别有风险的人群。本研究的目的是在遗传性癌症的科学和实际评估中测试人群筛查的结果。
在拉脱维亚的一个地理区域进行了遗传性癌症的回顾性人群筛查。收集了18642名成年人的家族癌症病史，这些成年人占该地区人口的76.6%。遗传性癌症综合征通过临床诊断。对588名报告血亲中至少有一例乳腺癌或卵巢癌的人进行了BRCA1基因常见突变300T/G、4153delA和5382insC的分子检测。
临床上，检测到74例（0.40%；95%置信区间（CI）：0.32 - 0.50%）高风险和548例（2.94%，95%CI：2.71 - 3.19）中度风险的遗传性癌症综合征，涵盖了广泛的癌症谱。所有综合征的特征是血亲中的癌症发生率很高，范围在8.6 - 46.2%，而配偶的相关性为2.5 - 3.6%。不同综合征的癌症发病平均年龄在38.0 - 72.0岁之间。在10名（1.7%；95%CI：0.9 - 3.1%）先证者中发现了BRCA1基因突变。临床筛查的人群中，确定携带BRCA1基因常见突变的家族频率为1:2663。
人群筛查是识别属于恶性肿瘤高发家族人群的一种有用的实用工具。确定了整个遗传性和家族性癌症谱以及年龄结构，调整了随访指南。人群筛查的另一个好处是有可能识别属于遗传性和家族性癌症家族的肿瘤学健康人群，以便提供适当的监测。临床诊断适用于人群筛查目的；分子研究提供了额外的信息。与家庭医生合作，筛查在技术上是可行的，其特点是依从性高。
