Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

doi:10.1016/j.ophtha.2019.11.009

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Article

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Ophthalmology - 1 May 2020

Abdel-Rahman Mohamed H, Sample Klarke M, Pilarski Robert, Walsh Tomas, Grosel Timothy, Kinnamon Daniel, Boru Getachew, Massengill James B, Schoenfield Lynn, Kelly Ben, Gordon David, Johansson Peter, DeBenedictis Meghan J, Singh Arun, Casadei Silvia, Davidorf Frederick H, White Peter, Stacey Andrew W, Scarth James, Fewings Ellie, Tischkowitz Marc, King Mary-Claire, Hayward Nicholas K, Cebulla Colleen M

Abstract excerpt

PURPOSE: To identify susceptibility genes associated with hereditary predisposition to uveal melanoma (UM) in patients with no detectable germline BAP1 alterations. DESIGN: Retrospective case series from academic referral centers. PARTICIPANTS: Cohort of 154 UM patients with high risk of hereditary cancer defined as patients with 1 or more of the following: (1) familial UM, (2) young age (<35 years) at diagnosis,...

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PMID: 32081490
DOI: 10.1016/j.ophtha.2019.11.009
PMCID: PMC7183432

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