Ar telomēru bioloģiju saistīto gēnu izmaiņu izpēte melanomas pacientiem ar aizdomām par ģenētisku predispozīciju
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Latvijas Universitāte
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lav
Abstract
Pētījumā analizētas piecas augsta melanomas riska gēnu (CDKN2A, CDK4, BAP1, POT1 un TERT) izmaiņas Latvijas pacientiem ar aizdomām par ģenētisku predispozīciju. Kopumā izanalizēti 106 melanomas pacienti, kuriem bija agrīns slimības sākums, melanomas vai citu audzēju gadījumi ģimenē, vairākas primāras melanomas. Gēnu izmaiņu identificēšanai tika izmantota mērķēta sekvencēšanas pieeja, izmantojot HaloPlex™ NGS paneļa metodi.
This study analyzed mutations in five high-risk melanoma genes (CDKN2A, CDK4, BAP1, POT1, and TERT) among Latvian patients suspected of having a genetic predisposition. A total of 106 patients were included, selected based on criteria such as early disease onset, family history of melanoma or other cancers, multiple primary melanomas. Targeted gene sequencing was performed using the HaloPlex™ NGS panel method.
This study analyzed mutations in five high-risk melanoma genes (CDKN2A, CDK4, BAP1, POT1, and TERT) among Latvian patients suspected of having a genetic predisposition. A total of 106 patients were included, selected based on criteria such as early disease onset, family history of melanoma or other cancers, multiple primary melanomas. Targeted gene sequencing was performed using the HaloPlex™ NGS panel method.