SAN ANTONIO – Patients with germline BRCA mutations who were diagnosed with breast cancer at or before age 40 and who underwent a bilateral risk-reducing mastectomy (RRM) and/or a risk-reducing ...

More information: Ksenija Nesic et al, BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance, Molecular Cancer (2024). DOI: 10.1186/s12943-024-02048-1 ...

The screening programme looks for mutations in the BRCA genes which push up a person’s risk of cancer. Everyone has BRCA1 and BRCA2 genes, but people who have changes in the gene are at higher ...

Scientists have characterized the role of thousands of mutations in the BRCA2 cancer gene, findings that may help reassure ...

by inactivating or creating a splice site. And more often than not, these mutations result in the exclusion of exons from mRNA, a process known as exon skipping. So finding a way to correct these ...

Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5′ splice site of intron 17, leading to exon skipping. However, most mutations were ...

A Mayo Clinic-led team of researchers is solving one of the most frustrating aspects of genetic cancer screening — results that give zero guidance to patients on whether they are at elevated risk.