Centre for Primary Health Care Research, Lund University and Region Skåne, Lund, Sweden.
Lancet Oncol. 2012 Jun;13(6):642-8. doi: 10.1016/S1470-2045(12)70132-8. Epub 2012 Apr 12.
Polyglutamine (polyQ) diseases are characterised by the expansion of CAG triplet repeats in specific genes. The accumulated encoded proteins affect the transcription of numerous transcription factors. We investigated whether polyQ diseases reduce the risk of cancer development.
Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. We calculated standardised incidence ratios for cancers at specific sites or of specific types and the risks were compared with those in the general population. We also analysed risks in the unaffected parents of patients.
In the period January, 1969, to December, 2008, we identified 1510 patients with HD, 471 with SBMA, and 3425 with HA. Cancer was diagnosed in 91 (6·0%) HD patients, 34 (7·2%) SBMA patients, and 421 (12·3%) HA patients. The standardised incidence ratios were 0·47 (95% CI 0·38-0·58), 0·65 (0·45-0·91), and 0·77 (0·70-0·85), respectively. Before diagnosis of polyQ disease, the risk of cancer was even lower. Cancer incidence and risk in the unaffected parents of patients with polyQ diseases were similar to those in the general population.
The consistently decreased incidence of cancer in patients with polyQ diseases suggests that a common mechanism protects against the development of cancer. This feature could be related to the polyQ-tract expansion seen in these diseases. Further studies are warranted to investigate the underlying mechanisms linking cancer and polyQ diseases.
Swedish Cancer Society, Swedish Council for Working Life and Social Research.
多聚谷氨酰胺（polyQ）疾病的特征是特定基因中 CAG 三核苷酸重复序列的扩展。积累的编码蛋白会影响许多转录因子的转录。我们研究了 polyQ 疾病是否会降低癌症发展的风险。
将瑞典亨廷顿病（HD）、脊髓延髓肌萎缩症（SBMA）和遗传性共济失调（HA）患者的多聚 Q 疾病数据与瑞典癌症登记处相关联。我们计算了特定部位或特定类型癌症的标准化发病比，并将风险与普通人群进行比较。我们还分析了患者未受影响父母的风险。
在 1969 年 1 月至 2008 年 12 月期间，我们确定了 1510 名 HD 患者、471 名 SBMA 患者和 3425 名 HA 患者。91 名（6.0%）HD 患者、34 名（7.2%）SBMA 患者和 421 名（12.3%）HA 患者被诊断出患有癌症。标准化发病比分别为 0.47（95%CI 0.38-0.58）、0.65（0.45-0.91）和 0.77（0.70-0.85）。在诊断出 polyQ 疾病之前，癌症的风险甚至更低。polyQ 疾病患者未受影响父母的癌症发病率和风险与普通人群相似。
polyQ 疾病患者癌症发病率持续下降表明，一种共同的机制可预防癌症的发展。这一特征可能与这些疾病中所见的 polyQ 链扩展有关。需要进一步研究来探讨将癌症与 polyQ 疾病联系起来的潜在机制。
瑞典癌症协会、瑞典工作生活与社会研究理事会。
