Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Br J Cancer. 2010 Jun 8;102(12):1786-90. doi: 10.1038/sj.bjc.6605708. Epub 2010 May 25.
Familial nervous system cancers are rare and limited data on familial aspects are available particularly on site-specific tumours.
Data from five Nordic countries were used to analyse familial risks of nervous system tumours. Standardised incidence ratios (SIRs) were calculated for offspring of affected relatives compared with offspring of non-affected relatives.
The total number of patients with nervous system tumour was 63 307, of whom 32 347 belonged to the offspring generation. Of 851 familial patients (2.6%) in the offspring generation, 42 (4.7%) belonged to the families of a parent and at least two siblings affected. The SIR of brain tumours was 1.7 in offspring of affected parents; it was 2.0 in siblings and 9.4 in families with a parent and sibling affected. For spinal tumours, the SIRs were much higher for offspring of early onset tumours, 14.0 for offspring of affected parents and 22.7 for siblings. The SIRs for peripheral nerve tumours were 16.3 in offspring of affected parents, 27.7 in siblings and 943.9 in multiplex families.
The results of this population-based study on medically diagnosed tumours show site-, proband- and age-specific risks for familial tumours, with implications for clinical genetic counselling and identification of the underlying genes.
家族性神经系统癌症较为罕见,关于家族性方面的资料有限,特别是针对特定部位的肿瘤。
本研究利用来自北欧五国的数据,分析了神经系统肿瘤的家族风险。通过比较患病亲属的子女与非患病亲属的子女,计算了标准化发病比(SIR)。
共有 63307 例神经系统肿瘤患者,其中 32347 例为子女一代。在子女一代的 851 例家族性患者(2.6%)中,有 42 例(4.7%)来自父母和至少两名兄弟姐妹均患病的家庭。患病父母子女的脑肿瘤 SIR 为 1.7;同胞的 SIR 为 2.0;父母和兄弟姐妹均患病的家庭的 SIR 为 9.4。对于脊髓肿瘤,发病较早的肿瘤患者的子女的 SIR 更高,患病父母子女的 SIR 为 14.0,同胞的 SIR 为 22.7。患病父母子女的周围神经肿瘤 SIR 为 16.3,同胞的 SIR 为 27.7,多发病例家庭的 SIR 为 943.9。
本项基于人群的医学诊断肿瘤研究结果显示,家族性肿瘤存在特定部位、患者和发病年龄的风险,这对临床遗传咨询和确定潜在基因具有重要意义。