Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

doi:10.1111/pcmr.13214

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Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

Pigment cell & melanoma research - 1 Jan 2025

Bokor Barbara Anna, Abdolreza Aliasgari, Kaptás Flóra, Pál Margit, Battyani Zita, Széll Márta, Nagy Nikoletta

Abstract excerpt

Both germline and somatic variants contribute to the genetic background and pathogenesis of melanoma. Germline variants include the presence of rare pathogenic or likely pathogenic variants of high, medium, and low penetrance melanoma-predisposing genes. Rare variants of high penetrance melanoma-predisposing genes are associated with melanoma development, whereas the medium and low penetrance predisposing genes...

Topics

Humans
Melanoma
Hungary
Genetic Predisposition to Disease
Penetrance
Female
Male
Middle Aged
Aged
Receptor, Melanocortin, Type 1
Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Skin Neoplasms

Germ-Line Mutation

Risk Factors

Caspase 8

Aged, 80 and over

Source

Open in PubMed

Identifiers

PMID: 39609110
DOI: 10.1111/pcmr.13214

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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