The Meningioma Consortium: Genome-Wide Association Study
脑膜瘤联盟:全基因组关联研究
基本信息
- 批准号:8547782
- 负责人:
- 金额:$ 59.8万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2010
- 资助国家:美国
- 起止时间:2010-07-01 至 2017-06-30
- 项目状态:已结题
- 来源:
- 关键词:ATM geneATM wt AlleleAccountingAddressAdultAgeAmendmentAreaAttentionBRCA1 geneBenignBiologicalBrain NeoplasmsCCND1 geneCaliforniaCancer-Predisposing GeneCase-Control StudiesCaucasiansCaucasoid RaceCephalicClinicalCollectionConnecticutCountyDNA Repair GeneDataData CollectionDiagnosisDoctor of PhilosophyERCC2 geneEpidemiologic StudiesEthnic OriginFemaleFundingGeneticGenetic MarkersGenotypeGeographyHormonesHousingInheritedInterviewIonizing radiationKRAS2 geneLinkMalignant NeoplasmsMassachusettsMelissaNeurologicNorth CarolinaPathologicPatientsPhasePredispositionPreventionPrimary Brain NeoplasmsProcessProteinsQuality of lifeRadiationRelative (related person)Request for ApplicationsResourcesRiskRisk FactorsSan FranciscoSeriesSiteSpecimenStagingStatutes and LawsStudy SubjectTargeted ResearchTexasTimeUnited StatesUnited States National Institutes of HealthUniversity HospitalsVariantWomanabstractingataxia telangiectasia mutated proteinbenign brain tumor cancer registriescancer geneticscase controlgenetic analysisgenome wide association studymalemalignant breast neoplasmmeningiomapopulation basedsextumor
项目摘要
Project Summary/ Abstract
Meningioma is the most common primary brain tumor, present in up to one percent of adults, and
although often considered benign, has survival comparable to breast cancer. Information on risk
factors is extremely limited. In an effort to better define such factors, we are conducting a
comprehensive population-based, case/control study of meningioma that includes 1600 cases and
1600 controls drawn from Massachusetts, Connecticut, North Carolina, California and Texas. This
will represent the largest population-based collection of meningioma cases worldwide, with more than
double the number of cases of any existing study. We are currently collecting biological specimens,
and extensive exposure and phenotypic data with funding from the National Institutes of Health (NIH
R01s CA109468, CA109461, CA109745, CA108473, and CA109475). In this application we request
funds to genotype the study subjects to find inherited risk loci for meningioma. Our aims are to 1)
Conduct the first genome wide association study (GWAS) of meningioma using the 1360 Caucasian
cases from our ongoing case/control project and 3420 Caucasian controls drawn from the first half of
three control series a) 600 controls from our ongoing case/control project, b) 1699 controls from
Illumina iControlDB and c) 1121 controls from the Cancer Genetic Markers of Susceptibility (CGEMs)
study, 2) Using 700 additional Caucasian meningioma subjects drawn from our clinical series and the
second half of the above mentioned controls (n=3420), replicate candidates from Aim 1 that yielded
p<10-5 for association with meningioma. Variants with p < 5.0*10-8 will be considered significant for
genome wide association with meningioma risk from combined stage 1 and stage 2 analyses, 3)
Replicate previous associations from the Interphone study8a of meningioma risk with variants in BRIP1
(the breast cancer susceptibility gene (BRCA1)-interacting protein) and ATM (ataxia telangiectasia
mutated gene) and 4) Replicate previous associations from the Tineas Capitas study of meningioma
risk with variants in DNA repair genes (KRAS2, ERCC2, CCND1).107 The proposed genetic analyses
would represent the first GWAS data for meningioma and also provide important replication of
previously observed associations with strong biological plausibility given the established association
between meningioma risk and ionizing radiation. Identification of risk loci for meningioma will likely
have strong etiologic significance with importance for both prevention and treatment.
项目总结/摘要
脑膜瘤是最常见的原发性脑肿瘤,在成人中高达1%,
虽然通常被认为是良性的,但其存活率与乳腺癌相当。了解风险
因素是非常有限的。为了更好地确定这些因素,我们正在进行一项
一项基于人群的脑膜瘤病例/对照研究,包括1600例病例,
来自马萨诸塞州、康涅狄格州、北卡罗来纳州、加州和德克萨斯州的1600个对照。这
将代表全世界最大的脑膜瘤病例群,
是现有研究的两倍。我们目前正在收集生物标本,
在美国国立卫生研究院(NIH)的资助下,
R 01为CA 109468、CA 109461、CA 109745、CA 108473和CA 109475)。在本申请中,我们要求
基金对研究对象进行基因分型,以发现脑膜瘤的遗传风险位点。我们的目标是1)
使用1360名白人进行第一次脑膜瘤全基因组关联研究(GWAS)
来自我们正在进行的病例/对照项目的3420例病例和来自2009年上半年的3420例白人对照。
三个对照系列a)来自我们正在进行的病例/对照项目的600个对照,B)来自
c)来自癌症易感性遗传标记(CGEM)的1121个对照
研究,2)使用从我们的临床系列中抽取的700名额外的高加索脑膜瘤受试者,
上述对照的第二半(n=3420),来自目标1的重复候选物,
p<10-5与脑膜瘤相关。p < 5.0*10-8的变量将被认为是显著的。
1期和2期联合分析的全基因组与脑膜瘤风险的相关性,3)
复制先前来自Interphone研究8a的脑膜瘤风险与BRIP 1变异的相关性
(the乳腺癌易感基因(BRCA 1)相互作用蛋白)和ATM(共济失调毛细血管扩张症
突变基因)和4)复制先前的关联从脑膜瘤的Tineas Capitas研究
DNA修复基因(KRAS 2、ERCC 2、CCND 1)变异的风险。
将代表脑膜瘤的第一个GWAS数据,也提供了重要的复制,
考虑到已建立的关联,先前观察到的关联具有较强的生物相容性
脑膜瘤风险和电离辐射之间的联系脑膜瘤的危险位点的识别将可能
具有很强的病因学意义,对预防和治疗都很重要。
项目成果
期刊论文数量(2)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Elizabeth B. Claus其他文献
Optimizing participant and community engagement in cancer genomic sequencing research
优化癌症基因组测序研究中的参与者和社区参与度
- DOI:
10.1016/j.gim.2025.101483 - 发表时间:
2025-09-01 - 期刊:
- 影响因子:6.200
- 作者:
Norah L. Crossnohere;Anne L.R. Schuster;Cindy K. Blair;Hasani Bland;John D. Carpten;Elizabeth B. Claus;Graham A. Colditz;Diane Diehl;Li Ding;Bettina F. Drake;Ryan C. Fields;Suzanne George;Katherine Janeway;Hyoshin Kim;Heinz-Josef Lenz;Jennifer W. Mack;Charité Ricker;Mariana C. Stern;Andrew Sussman;Jeffrey Trent;Zachary Crees - 通讯作者:
Zachary Crees
Distribution of copy number alterations and impact of chromosome arm call thresholds for meningioma
脑膜瘤拷贝数改变的分布及染色体臂调用阈值的影响
- DOI:
10.1038/s41467-025-60734-0 - 发表时间:
2025-07-02 - 期刊:
- 影响因子:15.700
- 作者:
Ruchit V. Patel;Hia S. Ghosh;David M. Meredith;Scott Ryall;Elizabeth B. Claus;Rameen Beroukhim;Azra H. Ligon;Sandro Santagata;Wenya Linda Bi - 通讯作者:
Wenya Linda Bi
Targeting IDH in Low-Grade Glioma.
针对低级别胶质瘤的 IDH。
- DOI:
- 发表时间:
2023 - 期刊:
- 影响因子:158.5
- 作者:
Elizabeth B. Claus;R. Verhaak - 通讯作者:
R. Verhaak
Incidence, risk factors, and reasons for hospitalization among glioblastoma patients receiving chemoradiation
接受放化疗的胶质母细胞瘤患者的发病率、危险因素和住院原因
- DOI:
- 发表时间:
2015 - 期刊:
- 影响因子:3.9
- 作者:
R. Rahman;P. Catalano;D. Reardon;A. Norden;P. Wen;E. Lee;L. Nayak;R. Beroukhim;Ian F. Dunn;A. Golby;Mark D. Johnson;E. Chiocca;Elizabeth B. Claus;Elizabeth B. Claus;B. Alexander;Nils D. Arvold - 通讯作者:
Nils D. Arvold
Integrative Copy Number and Mutational Analysis Improves Glioma Diagnostics
- DOI:
10.1016/j.cancergen.2014.06.011 - 发表时间:
2014-06-01 - 期刊:
- 影响因子:
- 作者:
Shakti H. Ramkissoon;Wenya L. Bi;Steven E. Schumacher;Lori A. Ramkissoon;Sam Haidar;Adrian M. Dubuc;Loreal Brown;Margot Burns;Jane Cryan;David A. Reardon;Eudocia Q. Lee;Mikael L. Rinne;Andrew D. Norden;Lakshmi Nayak;Sandra Ruland;Lisa M. Doherty;Debra C. LaFrankie;Andrea Russo;Nils D. Arvold;Elizabeth B. Claus - 通讯作者:
Elizabeth B. Claus
Elizabeth B. Claus的其他文献
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{{ truncateString('Elizabeth B. Claus', 18)}}的其他基金
OPTimIzing engageMent in discovery of molecular evolution of low grade glioma (OPTIMUM)
优化低级别神经胶质瘤分子进化发现的参与(OPTIMUM)
- 批准号:
10294462 - 财政年份:2021
- 资助金额:
$ 59.8万 - 项目类别:
OPTimIzing engageMent in discovery of molecular evolution of low grade glioma (OPTIMUM)
优化低级别神经胶质瘤分子进化发现的参与(OPTIMUM)
- 批准号:
10491794 - 财政年份:2021
- 资助金额:
$ 59.8万 - 项目类别:
The Meningioma Consortium: Genome-Wide Association Study
脑膜瘤联盟:全基因组关联研究
- 批准号:
8089585 - 财政年份:2010
- 资助金额:
$ 59.8万 - 项目类别:
The Meningioma Consortium: Genome-Wide Association Study
脑膜瘤联盟:全基因组关联研究
- 批准号:
8332667 - 财政年份:2010
- 资助金额:
$ 59.8万 - 项目类别: