Publications by authors named "Ute Weber"
Article Synopsis
- Screening for mutations in breast and ovarian cancer genes like BRCA1/2 is essential but can yield unclear results due to unclassified variants (UCVs) that complicate diagnosis.
- Researchers studied 30 BRCA1 variants to assess their impact on pre-mRNA processing using prediction algorithms and lab tests, finding 25 variants that affect splicing.
- The study showed that while intronic variants were mostly predicted accurately, exonic variants often evaded detection by algorithms, highlighting the need for experimental analysis to identify disease-causing mutations.
