Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas, USA.
Am J Epidemiol. 2010 Nov 15;172(10):1099-107. doi: 10.1093/aje/kwq261. Epub 2010 Sep 21.
In genome-wide association studies, inherited risk of glioma has been demonstrated for rare familial syndromes and with common variants from 3-5 chromosomal regions. To assess the degree of familial aggregation of glioma, the authors performed a pooled analysis of data from 2 large glioma case-control studies in the United States (MD Anderson Cancer Center, Houston, Texas (1994-2006) and University of California, San Francisco (1991-2004)) and from the Swedish Cancer Registry (1958-2006) to measure excess cases of cancer among first-degree relatives of glioma probands. This analysis included 20,377 probands with glioma and 52,714 first-degree relatives. No overall increase was found in the expected number of cancers among family members; however, there were 77% more gliomas than expected. There were also significantly more sarcoma and melanoma cases than expected, which is supported by evidence in the literature, whereas there were significantly fewer-than-expected cases of leukemia, non-Hodgkin lymphoma, and bladder, lung, pancreatic, prostate, and uterine cancers. This large pooled analysis provided sufficient numbers of related family members to examine the genetic mechanisms involved in the aggregation of glioma with other cancers in these families. However, misclassification due to unvalidated cancers among family members could account for the differences seen by study site.
在全基因组关联研究中，已证明罕见家族性综合征和 3-5 个染色体区域的常见变异与神经胶质瘤的遗传风险有关。为了评估神经胶质瘤的家族聚集程度，作者对美国 2 项大型神经胶质瘤病例对照研究（德克萨斯州休斯顿 MD 安德森癌症中心（1994-2006 年）和加利福尼亚大学旧金山分校（1991-2004 年））和瑞典癌症登记处（1958-2006 年）的数据进行了汇总分析，以衡量神经胶质瘤先证者一级亲属中癌症的超额病例。该分析包括 20377 例神经胶质瘤患者和 52714 例一级亲属。未发现家庭成员中癌症的预期数量有总体增加；然而，实际病例数比预期多 77%。还发现肉瘤和黑色素瘤病例明显多于预期，这得到了文献证据的支持，而白血病、非霍奇金淋巴瘤以及膀胱癌、肺癌、胰腺癌、前列腺癌和子宫癌的病例数明显低于预期。这项大型汇总分析提供了足够数量的相关家庭成员，以研究这些家庭中神经胶质瘤与其他癌症聚集的遗传机制。然而，由于家族成员中未经证实的癌症而导致的分类错误可能导致各研究点之间的差异。
