Background: Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence. However, our knowledge of normal and aberrant BRCA1 splicing events to date has been limited to data derived from assays targeting partial transcript sequences. This study explored the utility of nanopore sequencing to examine whole BRCA1 mRNA transcripts and to provide accurate categorisation of in-frame and out-of-frame splicing events.
| Authors | de Jong, Lucy C.; Cree, Simone; Lattimore, Vanessa; Wiggins, George A. R.; Spurdle, Amanda B.; Miller, Allison; Kennedy, Martin A.; Walker, Logan C. |
|---|---|
| Journal | BREAST CANCER RESEARCH |
| Pages | 127 |
| Volume | 19 |
| Date | 1/11/2017 |
| Grant ID | |
| Funding Body | Cancer Society of New Zealand Canterbury/West Coast Division |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1186/s13058-017-0919-1 |