Article
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
Experimental and molecular pathology - 1 Apr 2023
Jasiak Anna, Koczkowska Magdalena, Stukan Maciej, Wydra Dariusz, Biernat Wojciech, Izycka-Swieszewska Ewa, Buczkowski Kamil, Eccles Michael R, Walker Logan, Wasag Bartosz, Ratajska Magdalena
Abstract excerpt
BACKGROUND: The mRNA splicing is regulated on multiple levels, resulting in the proper distribution of genes' transcripts in each cell and maintaining cell homeostasis. At the same time, the expression of alternative transcripts can change in response to underlying genetic variants, often missed during routine diagnostics. AIM: The main aim of this study was to define the frequency of aberrant splicing in BRCA1...
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