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Article

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

Journal of the National Cancer Institute - 1 Dec 2017

Artomov Mykyta, Stratigos Alexander J, Kim Ivana, Kumar Raj, Lauss Martin, Reddy Bobby Y, Miao Benchun, Daniela Robles-Espinoza Carla, Sankar Aravind, Njauw Ching-Ni, Shannon Kristen, Gragoudas Evangelos S, Marie Lane Anne, Iyer Vivek, Newton-Bishop Julia A, Timothy Bishop D, Holland Elizabeth A, Mann Graham J, Singh Tarjinder, Daly Mark J, Tsao Hensin

Abstract excerpt

Background: Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM). Methods: Using 11 990 jointly processed individual DNA samples, whole-exome sequencing was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29522175
DOI: 10.1093/jnci/djx083
PMCID: PMC5939858

Genes

EBF3
BAP1
MITF

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