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Epigenetic variation and disease susceptibility

Thursday, October 11, 2012 — Concurrent Symposia Session IV

Noon – 2:00 p.m.

Balcony C


  • Xiaohong Yang, NCI


It has been increasingly recognized that disease susceptibility is determined not only by DNA sequence variations but also by complex regulations of gene expression that are primarily controlled by epigenetic mechanisms. Although most epigenetic changes are tissue-specific, constitutional epigenetic changes including global hypomethylation and gene-specific promoter hypermethylation in blood or non-disease involving tissues have been associated with disease susceptibility, such as methylations of BRCA1 and ATM in breast cancer. The most striking example is the identification of germline epimutations in tumor suppressor genes MLH1 and MSH2 as a major susceptibility mechanism in families with hereditary nonpolyposis colorectal cancer. Identifying these epigenetic modifications and integrating them with genetic variations will enhance our understanding of disease etiology and may ultimately improve risk prediction. This session will examine the current state of constitutional epigenetic variation in relation to disease risk and the challenges and opportunities to conduct epigenetic epidemiology studies.

Introduction: Epigenetic variation and disease susceptibility
Xiaohong Rose Yang, NCI

Genome-wide DNA methylation in blood and susceptibility to familial melanoma
Paula Hyland, NCI

Epigenetic variation and susceptibility to urological cancers.
Lee Moore, NCI

Interweaving genetic and epigenetic information with inheritance, plasticity, and cancer
Maxwell Lee, NCI

Profiling the chromatin landscape in disease
Gordon Hager, NCI

RRP1B is a Metastasis modifier that regulates mRNA splicing FARE Award Winner
Minnkyong Lee, NHGRI

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