Associated Genetic Biomarkers


NCI Definition: A melanoma that arises from the structures of the eye or ocular adnexa. [1]

Ocular melanomas most frequently harbor alterations in GNAQ, GNA11, BAP1, SF3B1, and MYC [2].

Most Commonly Altered Genes in Ocular Melanoma

GNAQ Mutation, GNA11 Mutation, GNA11 Q209L, BAP1 Mutation, and SF3B1 Mutation are the most common alterations in ocular melanoma [2].

Top Alterations in Ocular Melanoma

Significant Genes in Ocular Melanoma

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Melanoma of Eye, Eye Melanoma, Melanoma of the Eye
Malignant Eye Neoplasm
Eyelid Melanoma, Uveal Melanoma, Corneal Melanoma, Retinal Melanoma, and Conjunctival Melanoma
OncoTree Name
Ocular Melanoma
OncoTree Code


1. National Cancer Institute. NCI Thesaurus Version 18.11d. [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.