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Article

Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Virchows Archiv : an international journal of pathology - 1 Mar 2017

Lobo João, Pinto Carla, Freitas Micaela, Pinheiro Manuela, Vizcaino Rámon, Oliva Esther, Teixeira Manuel R, Jerónimo Carmen, Bartosch Carla

Abstract excerpt

Currently, uveal melanoma is not considered within the Lynch syndrome tumor spectrum. However, there are studies suggesting a contribution of microsatellite instability in sporadic uveal melanoma tumorigenesis. We report a 45-year-old woman who was referred for genetic counseling due to a family history of Lynch syndrome caused by a MLH1 mutation. She originally underwent enucleation of the right eye secondary to...

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Source

Identifiers

PMID: 27915441
DOI: 10.1007/s00428-016-2052-4

Genes

MLH1
PMS2
BRAF
GNAQ

Provenance

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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