Telomere length in hereditary melanoma patients with variants in telomere biology related genes

Background: Cutaneous melanoma is the most aggressive skin cancer, responsible for most skin cancer-related deaths. About 10% of melanomas are heritable, occurring in familial settings or as part of cancer syndromes. Genetic testing primarily targets high-risk genes, with CDKN2A mutations accounting for ~20% of familial melanoma cases. Mutations in CDK4, BAP1, and telomere-related genes, such as POT1 and TERT, contribute an additional ~5% of inherited melanomas.

Authors

Publication Details

Journal
EJC Skin Cancer
Published
2025-01-01
DOI
https://doi.org/10.1016/j.ejcskn.2025.100454
Primary Topic
Telomeres, Telomerase, and Senescence
Type
article
Field-Weighted Citation Impact
0.00
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article

Telomere length in hereditary melanoma patients with variants in telomere biology related genes

Madara Kreišmane, Dace Pjanova
EJC Skin Cancer
Telomeres, Telomerase, and Senescence
article

Telomere length in hereditary melanoma patients with variants in telomere biology related genes

Madara Kreišmane, Dace Pjanova
article en

Abstract

Background: Cutaneous melanoma is the most aggressive skin cancer, responsible for most skin cancer-related deaths. About 10% of melanomas are heritable, occurring in familial settings or as part of cancer syndromes. Genetic testing primarily targets high-risk genes, with CDKN2A mutations accounting for ~20% of familial melanoma cases. Mutations in CDK4, BAP1, and telomere-related genes, such as POT1 and TERT, contribute an additional ~5% of inherited melanomas.

EJC Skin CancerVol. 3
Zero hunger
Openalex Percentile: Top 92%
Telomeres, Telomerase, and Senescence
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Telomere length in hereditary melanoma patients with variants in telomere biology related genes — Madara Kreišmane, Dace Pjanova · EJC Skin Cancer (2025) | TGRS Research Map | TGRS