Processed Transcript Insertion as a Novel Germline Mutational Mechanism in BRCA1 -Associated Hereditary Breast Cancer.

Simple Summary: Structural variations in cancer predisposition genes significantly contribute to the pool of pathogenic variants underlying heritable cancer susceptibility. In this report, we describe and functionally characterize a novel transposon-mediated germline pathogenic insertion identified...

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Publicado en:Cancers Vol. 17; no. 23; pp. 3872 - 3883
Autores principales: Bozsik, Anikó, Butz, Henriett, Grolmusz, Vince Kornél, Nagy, Petra, Pócza, Tímea, Tóth, Erika, Csernák, Erzsébet, Patócs, Attila, Papp, János
Formato: pictorial tables/charts Journal Article
Publicado: MDPI Dec2025
Acceso en línea:Ver este registro en EBSCOhost