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Article

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal of dermatological science - 1 Jan 2013

Hawkes Jason E, Cassidy Pamela B, Manga Prashiela, Boissy Raymond E, Goldgar David, Cannon-Albright Lisa, Florell Scott R, Leachman Sancy A

Abstract excerpt

BACKGROUND: Oculocutaneous albinism type 2 (OCA2) is caused by mutations of the OCA2 gene. Individuals affected by OCA2 as well as other types of albinism are at a significantly increased risk for sun-induced skin-cancers, including malignant melanoma (MM). OBJECTIVE: To identify the molecular etiology of oculocutaneous albinism in a previously uncharacterized melanoma pedigree and to investigate the relationship...

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Topics

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Share to Albinism, Oculocutaneous
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Melanoma

Share to Membrane Transport Proteins

Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 23103111
DOI: 10.1016/j.jdermsci.2012.09.016
PMCID: PMC4775076

Genes

OCA2
CDK4
TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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