Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay
Finally aberrant splicing patterns were found in three of the four variants: BRCA1:c.80 + 3_80 + 5del, BRCA1:c.548-15G > A, BRCA2:c.8755-19 A > G that were previously classified as VUS through experimental analysis. As a result, we reclassify BRCA1;c.80 + 3_80 + 5del as LP and we classify BRCA1;c.548-15G > A and BRCA2;c.8755-19 A > G as VUS.
Authors
- Moon‐Woo Seong (ORCID: https://orcid.org/0000-0003-2954-3677)
- H. Yim
- Seung Won Chae (ORCID: https://orcid.org/0000-0002-5072-8679)
- So Youn Youn (ORCID: https://orcid.org/0000-0001-9275-7227)
- Jee‐Soo Lee (ORCID: https://orcid.org/0000-0002-6633-4631)
- Yeseul Kim (ORCID: https://orcid.org/0000-0002-6870-9214)
- Sung Im Cho (ORCID: https://orcid.org/0000-0002-3819-8046)
- Joowon Jang (ORCID: https://orcid.org/0000-0003-4927-7222)
Institutions
- Seoul National University (KR)
- Seoul National University Hospital (KR)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-11-29
- DOI
- https://doi.org/10.1186/s40246-025-00853-3
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00