J Cancer 2018; 9(17):3078-3083. doi:10.7150/jca.26404

Research Paper

Genetic polymorphisms may influence the vertical growth rate of melanoma

Mariusz Sikora1, Lidia Rudnicka1✉, Barbara Borkowska1, Agnieszka Kardynał2, Monika Słowińska3, Adriana Rakowska1, Olga Warszawik-Hendzel1, Anna Wiergowska2, Iwona Ługowska4, Piotr Rutkowski4, Tadeusz Dębniak5, Jan Lubiński5, Małgorzata Olszewska1

1. Department of Dermatology, Medical University of Warsaw, 02-008 Warsaw, Poland
2. Department of Dermatology, Central Clinical Hospital MSWiA, 02-507 Warsaw, Poland
3. Department of Dermatology, Military Institute of Medicine, 04-141 Warsaw, Poland
4. Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, 02-781 Warsaw, Poland
5. Department of Genetics and Pathomorphology, Pomeranian Medical University, 70-111 Szczecin, Poland.

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Citation:
Sikora M, Rudnicka L, Borkowska B, Kardynał A, Słowińska M, Rakowska A, Warszawik-Hendzel O, Wiergowska A, Ługowska I, Rutkowski P, Dębniak T, Lubiński J, Olszewska M. Genetic polymorphisms may influence the vertical growth rate of melanoma. J Cancer 2018; 9(17):3078-3083. doi:10.7150/jca.26404. Available from http://www.jcancer.org/v09p3078.htm

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Abstract

Background: Identification of new predictive markers in melanoma is of great clinical importance. This study was aimed to analyze association between selected common variants in the cancer susceptibility genes and melanoma progression at the time of diagnosis.

Material and Method: The study included 243 consecutive patients with melanoma. Genotyping was performed using real-time PCR.

Results: Our data revealed modest association between xeroderma pigmentosum complementation group D (XPD) codon 312 polymorphism and tumor thickness (as defined by Breslow score; XPD D312N CC: 3.00 ± 3.78mm, CT: 1.71 ± 2.48mm, TT: 2,53 ± 3,24mm, P=0.023). The CT genotype in XPD D312N polymorphism was more frequently represented in non-invasive melanomas compared to deeply penetrating tumors. None of the common SNPs in cyclin dependent kinase inhibitor 2A (CDKN2A), vitamin D receptor (VDR), melanocortin 1 receptor (MC1R) were associated with Breslow depth.

Conclusion: These findings suggest that genetic alteration in XPD contributes to melanoma progression and may be a potential diagnostic and molecular prognostic marker.

Keywords: CDKN2A, MC1R, cutaneous melanoma, polymorphism, VDR, XPD.