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Article

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.

Human genomics - 29 Nov 2025

Yim Hara, Youn Seonhoo, Chae Seung Won, Kim Yeseul, Jang Joowon, Cho Sung Im, Lee Jee-Soo, Seong Moon-Woo

Abstract excerpt

BACKGROUND: BRCA1 and BRCA2, known as tumor suppressor genes, have been shown to increase the risk of developing breast and ovarian cancer. Intronic variants that can result in aberrant splicing events are classified as Variant uncertain significance until the functional impact is clearly predicted or confirmed. Thus, the purpose of this study is to assist in the interpretation of splicing variants and to...

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Identifiers

PMID: 41318565
DOI: 10.1186/s40246-025-00853-3
PMCID: PMC12772076

Genes

BRCA1
BRCA2

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