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Article

A systematic review of cancer risks associated with MITF variants.

Familial cancer - 19 Sept 2026

Monti Luigi, Godino Lea, Dessinioti Clio, Stratigos Alex, Papadodima Olga, Pintzas Alexander, Nicoară Delia, Albert Yvette, Boccia Stefania, Barbato Sara, Erini Giulia, Miccoli Sara, Innella Giovanni, Turchetti Daniela

Abstract excerpt

The MITF E318K variant has been associated with melanoma risk, while risk associated with other variants or of other cancers remains uncertain. We performed a systematic review with meta-analysis of 11 retrospective case-control studies to evaluate cancer risks associated with germline MITF variants. Across 8,606 melanoma patients and 17,953 controls, the E318K variant was detected in 2.1% and 0.8% of...

Read the complete abstract on PubMed

Topics

Humans
Microphthalmia-Associated Transcription Factor
Melanoma
Genetic Predisposition to Disease
Skin Neoplasms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Case-Control Studies

Risk Factors

Germ-Line Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42762364
DOI: 10.1007/s10689-026-00603-x
PMCID: PMC13589756

Genes

MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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A systematic review of cancer risks associated with MITF variants.PMID 42762364Read ↗

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