Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.

ABSTRACT:

Background/objective

Large genomic rearrangements of PALB2 gene, particularly deletions and duplications, have been linked to hereditary breast-ovarian cancer. Our research specifically focuses on delineating the intronic breakpoints associated with rearrangements of PALB2 exon 11, which is crucial for understanding the mechanisms underlying these genomic changes in patients with hereditary breast and ovarian syndrome.

Methods

By using next-generation sequencing, we identified one duplication and three deletions of PALB2 exon 11, confirmed by Multiplex Ligation-Dependent Probe Amplification analysis. To assess the impact on transcription and potential splicing issues, reverse-transcription PCR was performed on patients' RNA. For the detailed characteriza

SUBMITTER: Sidoti D 

PROVIDER: S-EPMC11640139 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature