Počet záznamů: 1
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
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SYSNO ASEP 0539741 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes Tvůrce(i) Stolařová, Lenka (UMG-J)
Jelinkova, S. (CZ)
Štorchová, Radka (UMG-J)
Machackova, E. (CZ)
Zemankova, P. (CZ)
Vocka, M. (CZ)
Kodet, O. (CZ)
Král, J. (CZ)
Černá, M. (CZ)
Volková, Z. (CZ)
Janatová, M. (CZ)
Soukupová, J. (CZ)
Stránecký, V. (CZ)
Dundr, P. (CZ)
Foretová, L. (CZ)
Macůrek, Libor (UMG-J) RID, ORCID
Kleiblová, P. (CZ)
Kleibl, Z. (CZ)Celkový počet autorů 18 Číslo článku 404 Zdroj.dok. Biomedicines. - : MDPI
Roč. 8, č. 10 (2020)Poč.str. 18 s. Forma vydání Online - E Jazyk dok. eng - angličtina Země vyd. CH - Švýcarsko Klíč. slova melanoma ; familial melanoma ; hereditary cancer predisposition ; germline mutations ; panel sequencing ; ngs Vědní obor RIV EB - Genetika a molekulární biologie Obor OECD Oncology CEP NV16-30954A GA MZd - Ministerstvo zdravotnictví NV19-03-00279 GA MZd - Ministerstvo zdravotnictví Způsob publikování Open access Institucionální podpora UMG-J - RVO:68378050 UT WOS 000584522600001 DOI 10.3390/biomedicines8100404 Anotace Cutaneous melanoma is the deadliest skin malignity with a rising prevalence worldwide. Patients carrying germline mutations in melanoma-susceptibility genes face an increased risk of melanoma and other cancers. To assess the spectrum of germline variants, we analyzed 264 Czech melanoma patients indicated for testing due to early melanoma (at <25 years) or the presence of multiple primary melanoma/melanoma and other cancer in their personal and/or family history. All patients were analyzed by panel next-generation sequencing targeting 217 genes in four groups: high-to-moderate melanoma risk genes, low melanoma risk genes, cancer syndrome genes, and other genes with an uncertain melanoma risk. Population frequencies were assessed in 1479 population-matched controls. Selected POT1 and CHEK2 variants were characterized by functional assays. Mutations in clinically relevant genes were significantly more frequent in melanoma patients than in controls (31/264, 11.7% vs. 58/1479, 3.9%, p = 2.0 x 10(-6)). A total of 9 patients (3.4%) carried mutations in high-to-moderate melanoma risk genes (CDKN2A, POT1, ACD) and 22 (8.3%) patients in other cancer syndrome genes (NBN, BRCA1/2, CHEK2, ATM, WRN, RB1). Mutations in high-to-moderate melanoma risk genes (OR = 52.2, 95%CI 6.6-413.1, p = 3.2 x 10(-7)) and in other cancer syndrome genes (OR = 2.3, 95%CI 1.4-3.8, p = 0.003) were significantly associated with melanoma risk. We found an increased potential to carry these mutations (OR = 2.9, 95%CI 1.2-6.8) in patients with double primary melanoma, melanoma and other primary cancer, but not in patients with early age at onset. The analysis revealed affected genes in Czech melanoma patients and identified individuals who may benefit from genetic testing and future surveillance management of mutation carriers. Pracoviště Ústav molekulární genetiky Kontakt Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Rok sběru 2021 Elektronická adresa https://www.mdpi.com/2227-9059/8/10/404
Počet záznamů: 1