Genes in the Predisposition to Papillary Thyroid Carcinoma
甲状腺乳头状癌易感基因
基本信息
- 批准号:8505963
- 负责人:
- 金额:$ 37.82万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2008
- 资助国家:美国
- 起止时间:2008-03-01 至
- 项目状态:未结题
- 来源:
- 关键词:12q144q328q24AccountingAffectAllelesBioinformaticsCandidate Disease GeneCase-Control StudiesChromosomesCollaborationsDataData AnalysesDatabasesDevelopmentDiagnosticDisease OutcomeElementsEnhancersEpithelialEtiologyEventFamilyFunctional RNAGene TargetingGenesGeneticGenetic CounselingGenetic Predisposition to DiseaseGenetic VariationGenomeGenomicsGenotypeHeritabilityIndividualInstructionLeadLengthMalignant NeoplasmsMalignant neoplasm of thyroidMediatingMedicineMethodologyMethodsMolecularMolecular GeneticsMorbidity - disease rateMutateMutationNatureNucleotidesOutcomeOutcomes ResearchPapillary thyroid carcinomaPathogenesisPathway interactionsPatientsPenetrancePharmacotherapyPopulation StudyPredispositionPriceProgress ReportsResearchRiskRisk AssessmentRoleSamplingSignal PathwayStratificationSusceptibility GeneTechnologyTestingThyroid GlandTissuesTranscriptional RegulationUntranslated RNAVariantbasecancer initiationdeep sequencingdesigndisease-causing mutationevidence baseexomefallsgene functiongenetic linkage analysisgenetic risk assessmentgenetic variantgenome sequencinggenome wide association studyimprovedinsightkindredmembermortalitynovelpositional cloningresearch studyscreeningtherapeutic target
项目摘要
The broad, long term objective of this project is to reduce morbidity and mortality caused by papillary
thyroid carcinoma (PTC) which accounts for - 80% of all thyroid cancer. PTC displays remarl<ably high
heritability suggesting the existence of genes that when mutated predispose to PTC. The traditional way of
searching for such genes is by linkage analysis in families with multiple affected individuals. Despite
vigorous world-wide research this approach has yielded modest results in that only 3 genes have been
detected that in all lil<elihood cause PTC, and the total number of individuals affected by these genes is
minimal. This has led to the hypothesis that the putative culpable genes are either common but of
extremely low effect size (penetrance) or might be of higher penetrance but rare or super rare. Our
genome wide association studies (GWAS) have begun to sustain this hypothesis in that several loci with
low effect size have been detected. We are focusing on rare higher penetrance genes in families in this
Project based on findings from the first cycle of this POl. In particular, a novel type of gene, long intergenic
noncoding RNA (lincRNAs) appears to underlie at least some of these susceptibility loci. We are presently
applying whole genome sequencing to members of affected families in search of further culpable genes.
At least one case of an ultra rare high penetrance gene has been detected in this way, and with
improvements in technology this avenue likely will lead to a fuller understanding of the genetic
predisposition to PTC.
该项目广泛的长期目标是减少乳头状瘤引起的发病率和死亡率。
甲状腺癌(PTC)占所有甲状腺癌的约80%。PTC显示器的显示温度非常高
遗传性表明存在突变时易患PTC的基因。的传统方式
通过在具有多个受影响个体的家庭中进行连锁分析来寻找这样的基因。尽管
这种方法在全世界范围内进行了积极的研究,结果并不多,因为只有3个基因被
检测到所有导致PTC的基因,受这些基因影响的个体总数是
最小的这导致了一种假设,即假定的罪魁祸首基因要么是常见的,
极低的效应量(极低的效应量)或可能具有较高的极低的效应量,但罕见或超级罕见。我们
全基因组关联研究(GWAS)已经开始支持这一假设,因为几个基因座具有
已检测到低效应量。我们关注的是这个家族中罕见的高突变率基因。
基于本项目第一轮研究结果的项目。特别是,一种新型基因,长基因间隔,
非编码RNA(lincRNA)似乎是这些易感性基因座中的至少一些的基础。我们目前正在
对受影响的家庭成员进行全基因组测序,以寻找更多的罪魁祸首基因。
至少有一例超罕见的高突变率基因已经以这种方式被发现,
技术的进步,这条途径可能会导致对遗传的更全面的理解。
易患PTC。
项目成果
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ALBERT DE LA CHAPELLE其他文献
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{{ truncateString('ALBERT DE LA CHAPELLE', 18)}}的其他基金
Low-Penetrance Genes in the Predisposition to Papillary Thyroid Cancer
低外显率基因易患甲状腺乳头状癌
- 批准号:
8588543 - 财政年份:2013
- 资助金额:
$ 37.82万 - 项目类别:
Early Predisposing Genes and Risk Stratification for CLL
CLL 的早期易感基因和风险分层
- 批准号:
7715167 - 财政年份:2009
- 资助金额:
$ 37.82万 - 项目类别:
Genes in the Predisposition to Papillary Thyroid Carcinoma
甲状腺乳头状癌易感基因
- 批准号:
8697753 - 财政年份:2008
- 资助金额:
$ 37.82万 - 项目类别:
Genes in the Predisposition to Papillary Thyroid Carcinoma
甲状腺乳头状癌易感基因
- 批准号:
9246459 - 财政年份:2008
- 资助金额:
$ 37.82万 - 项目类别:
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