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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：
ALBERT DE LA CHAPELLE
金额：
$ 37.82万
依托单位：
OHIO STATE UNIVERSITY
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：
https://reporter.nih.gov/project-details/8505963
关键词：
12q14 4q32 8q24 Accounting Affect Alleles Bioinformatics Candidate Disease Gene Case-Control Studies Chromosomes Collaborations Data Data Analyses Databases Development Diagnostic Disease Outcome Elements Enhancers Epithelial Etiology Event Family Functional RNA Gene Targeting Genes Genetic Genetic Counseling Genetic Predisposition to Disease Genetic Variation Genome Genomics Genotype Heritability Individual Instruction Lead Length Malignant Neoplasms Malignant neoplasm of thyroid Mediating Medicine Methodology Methods Molecular Molecular Genetics Morbidity - disease rate Mutate Mutation Nature Nucleotides Outcome Outcomes Research Papillary thyroid carcinoma Pathogenesis Pathway interactions Patients Penetrance Pharmacotherapy Population Study Predisposition Price Progress Reports Research Risk Risk Assessment Role Sampling Signal Pathway Stratification Susceptibility Gene Technology Testing Thyroid Gland Tissues Transcriptional Regulation Untranslated RNA Variant base cancer initiation deep sequencing design disease-causing mutation evidence base exome falls gene function genetic linkage analysis genetic risk assessment genetic variant genome sequencing genome wide association study improved insight kindred member mortality novel positional cloning research study screening therapeutic 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.

该项目的长期目标是降低乳头状瘤的发病率和死亡率