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Article

Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant.

Familial cancer - 1 Jan 2022

Grosel Timothy W, Karl Matthew, Pilarski Robert T, Davidorf Frederick H, Abdel-Rahman Mohamed H, Cebulla Colleen M

Abstract excerpt

Recent evidence suggests that PALB2 variants may increase risk for the development of uveal melanoma and uveal melanocytic neoplasms. Here we report a case of an atypical choroidal nevus in a patient with a personal history of cancer and pathogenic PALB2 germline variant. A 75-year-old white female presented with an elevated predominantly amelanotic choroidal lesion OS. On examination and ophthalmic imaging, the...

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Identifiers

PMID: 33403473
DOI: 10.1007/s10689-020-00220-2
PMCID: PMC8257753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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