Melanoma predisposition genes in the Latvian population

6533b853fe1ef96bd12ad952

RESEARCH PRODUCT

Melanoma predisposition genes in the Latvian population

subject

Bioloģija Molecular Biology Molekulārā bioloģija

description

Ādas melanoma ir ļaundabīgākais ādas audzējs. Darba mērķis bija izvērtēt augsta, vidēja un zema melanomas riska gēnu ietekmi uz melanomas attīstību un izdzīvotību Latvijas populācijā. Pirmo reizi Latvijā atrasts CDKN2A variants, kas saistīts ar melanomas attīstību. Atrasta trešā ģimene Latvijā ar atkārtotiem melanomas saslimšanas gadījumiem un variantu p.Arg24His CDK4 gēnā. Galvenais riska variants sporādiskajiem melanomas pacientiem Latvijā ir vidēja riska gēna MC1R variants p.Arg151Cys. Melanomas risks ir atkarīgs no MC1R variantu skaita, un to veidotais risks ir neatkarīgs no pigmentācijas fenotipa. Vidēja un zema melanomas riska gēnu MITF, TP53 un MDM2 variantiem ir maza ietekme uz melanomas attīstību Latvijā, bet PARP1 variants rs2249844 ir saistīts ar paaugstinātu nāves risku. Atslēgas vārdi: melanoma, ģenētiskās izmaiņas -

year	journal	country	edition	language
2019-01-01

https://dspace.lu.lv/dspace/handle/7/46469

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