Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis

Cutaneous melanoma is the most aggressive of skin tumors. In order to discover new biomarkers that could help us improve prognostic prediction in melanoma patients, we have searched for germline DNA variants associated with melanoma progression. Thus, after exome sequencing of a set of melanoma pati...

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Bibliographic Details
Published in:Life (Basel, Switzerland) Switzerland), 2022-12, Vol.12 (12), p.2004
Main Authors: Sevilla, Arrate, Sánchez-Diez, Ana, Cobo, Sofía, Izagirre, Neskuts, Martinez-Cadenas, Conrado, Martí, Rosa M, Puértolas, Teresa, de Unamuno, Blanca, Bañuls, José, Izu, Rosa, Gardeazabal, Jesús, Asumendi, Aintzane, Boyano, María D, Alonso, Santos
Format: Article
Language:English
Subjects:
Alleles
Biobanks
biomarker
Biomarkers
Cancer
Committees
Deoxyribonucleic acid
Development and progression
DNA
Ethics
Genetic aspects
Genomics
Genotype & phenotype
Genotyping
Medical prognosis
Melanoma
Metastasis
Oncology, Experimental
Prognosis
risk
Risk factors
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Skin cancer
Tumors
tyrosinase (TYR)
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Summary:Cutaneous melanoma is the most aggressive of skin tumors. In order to discover new biomarkers that could help us improve prognostic prediction in melanoma patients, we have searched for germline DNA variants associated with melanoma progression. Thus, after exome sequencing of a set of melanoma patients and healthy control individuals, we identified rs1042602, an SNP within , as a good candidate. After genotyping rs1042602 in 1025 patients and 773 healthy donors, we found that the rs1042602-A allele was significantly associated with susceptibility to melanoma (CATT test: = 0.0035). Interestingly, we also observed significant differences between patients with good and bad prognosis (5 years of follow-up) (n = 664) (CATT test for all samples = 0.0384 and for men alone = 0.0054). Disease-free-survival (DFS) analyses also showed that patients with the A allele had shorter DFS periods. In men, the association remained significant even in a multivariate Cox Proportional-hazards model, which was adjusted for age at diagnosis, Breslow thickness, ulceration and melanoma subtype (HR 0.4; 95% confidence interval (CI) 0.20-0.83; = 0.0139). Based on our results, we propose that rs1042602-A is a risk allele for melanoma, which also seems to be responsible for a poorer prognosis of the disease, particularly in men.
ISSN:2075-1729
2075-1729
DOI:10.3390/life12122004