Malmer Beatrice, Adatto Phyllis, Armstrong Georgina, Barnholtz-Sloan Jill, Bernstein Jonine L, Claus Elizabeth, Davis Faith, Houlston Richard, Il'yasova Dora, Jenkins Robert, Johansen Christoffer, Lai Rose, Lau Ching, McCarthy Bridget, Nielsen Hanne, Olson Sara H, Sadetzki Siegal, Shete Sanjay, Wiklund Fredrik, Wrensch Margaret, Yang Ping, Bondy Melissa
Department of Epidemiology, The University of Texas M. D. Anderson Cancer Center, Unit 1340, P.O. Box 301439, Houston, TX 77230-1439, USA.
Cancer Epidemiol Biomarkers Prev. 2007 Sep;16(9):1730-4. doi: 10.1158/1055-9965.EPI-07-0081.
Evidence for familial aggregation of glioma has been documented in both case-control and cohort studies and occurs apart from the well-described rare inherited genetic syndromes involving glioma: neurofibromatosis type 1 and 2, tuberous sclerosis, Turcot's syndrome, and Li-Fraumeni syndrome. Nonsyndromic glioma families have been studied but no genes have been identified in the two published linkage studies of familial glioma probably due to the small number of families. Because glioma is a rare but devastating cancer, and a family history of glioma has been observed in approximately 5% of the cases, we initiated an international consortium to identify glioma families not affected by syndromes to better understand the inherited factors related to this disease. The international consortium GLIOGENE is an acronym for "glioma gene" and includes 15 research groups in North America, Europe, and Israel to study familial glioma. The overarching goal is to characterize genes in glioma families using a genome-wide single-nucleotide polymorphism approach and conducting linkage analysis to identify new genomic regions or loci that could harbor genes important for gliomagenesis. Here, we review the rationale for studying familial glioma and our proposed strategy for the GLIOGENE study.
在病例对照研究和队列研究中均已记录到胶质瘤家族聚集的证据，且这种情况独立于已详细描述的涉及胶质瘤的罕见遗传性基因综合征之外：1型和2型神经纤维瘤病、结节性硬化症、Turcot综合征和李-佛美尼综合征。非综合征性胶质瘤家族已得到研究，但在两项已发表的家族性胶质瘤连锁研究中均未鉴定出相关基因，这可能是由于家族数量较少所致。由于胶质瘤是一种罕见但具有毁灭性的癌症，且约5%的病例存在胶质瘤家族病史，我们发起了一个国际联盟，旨在识别未受综合征影响的胶质瘤家族，以便更好地了解与该疾病相关的遗传因素。国际联盟GLIOGENE是“胶质瘤基因”的首字母缩写，包括北美、欧洲和以色列的15个研究小组，致力于研究家族性胶质瘤。总体目标是使用全基因组单核苷酸多态性方法对胶质瘤家族中的基因进行特征分析，并进行连锁分析，以识别可能包含对胶质瘤发生至关重要的基因的新基因组区域或位点。在此，我们回顾了研究家族性胶质瘤的基本原理以及我们为GLIOGENE研究提出的策略。
