Towards resolution of the intron retention paradox in breast cancer.

ABSTRACT:

Background

After many years of neglect in the field of alternative splicing, the importance of intron retention (IR) in cancer has come into focus following landmark discoveries of aberrant IR patterns in cancer. Many solid and liquid tumours are associated with drastic increases in IR, and such patterns have been pursued as both biomarkers and therapeutic targets. Paradoxically, breast cancer (BrCa) is the only tumour type in which IR is reduced compared to adjacent normal breast tissue.

Methods

In this study, we have conducted a pan-cancer analysis of IR with emphasis on BrCa and its subtypes. We explored mechanisms that could cause aberrant and pathological IR and clarified why normal breast tissue has unusually high IR.

Results

Strikingly, we found that aberrantly

SUBMITTER: Shah JS 

PROVIDER: S-EPMC9798573 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature