BRCA1-No Matter How You Splice It.

Abstract

<i>BRCA1</i> (breast cancer 1, early onset), a well-known breast cancer susceptibility gene, is a highly alternatively spliced gene. <i>BRCA1</i> alternative splicing may serve as an alternative regulatory mechanism for the inactivation of the <i>BRCA1</i> gene in both hereditary and sporadic breast cancers, and other <i>BRCA1</i>-associated cancers. The alternative transcripts of <i>BRCA1</i> can mimic known functions, possess unique functions compared with the full-length <i>BRCA1</i> transcript, and in some cases, appear to function in opposition to full-length <i>BRCA1</i> In this review, we will summarize the functional "naturally occurring" alternative splicing transcripts of <i>BRCA1</i> and then discuss the latest next-generation sequencing-based detection methods and techniques to detect alternative <i>BRCA1</i> splicing patterns and their potential use in cancer diagnosis, prognosis, and therapy.