ID

45743

Beschrijving

Principal Investigator: Rose Yang, PhD, National Institutes of Health, Bethesda, MD, USA MeSH: Melanoma, Cutaneous Malignant https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001177 Although a number of high-risk melanoma genes have been identified, they account for melanoma risk in less than 40% of melanoma-prone families. The major goals of our research are to identify novel high-penetrance genes for familial melanoma in melanoma-prone families without known mutations and to identify modifier factors, including genetic and epigenetic, in melanoma-prone families with and without known major mutations. We are using whole exome sequencing to identify additional high-risk susceptibility genes and using targeted sequencing to follow up on the top genes in additional family members and in population-based melanoma cases and controls. We are also using RNASeq to investigate genome-wide allele-specific expression and eQTLs in these families to identify genes with expression alteration, which will provide additional information for gene discovery. In addition, we also conducted genome-wide copy number variation (CNV), methylation, and miRNA expression profiling analyses in our melanoma families with the goal of identifying genetic and epigenetic factors as disease modifiers.

Link

dbGaP-study=phs001177

Trefwoorden

Versies (1)

1. 02-06-23 02-06-23 - Chiara Middel

Houder van rechten

Rose Yang, PhD, National Institutes of Health, Bethesda, MD, USA

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2 juni 2023

DOI

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Licentie