Whole-exome sequencing of FFPE samples reveals mutations associated with Luminal A breast cancer recurrence.

ABSTRACT:

Background

Early-stage Luminal A breast cancer generally has a favorable prognosis, yet some patients experience recurrence, presenting a challenge in understanding the underlying genetic factors. This study aimed to identify genetic mutations associated with recurrence in early-stage Luminal A breast cancer patients through whole-exome sequencing (WES).

Methods

We collected formalin-fixed paraffin-embedded samples from 34 patients and divided them into two groups: 17 patients with recurrence within five years post-surgery (recurrence group) and 17 patients with no recurrence for over five years (control group). The extracted DNA went through library preparation and was subjected to WES. Sequencing data went through quality control, alignment, and mutation identification. Fu

SUBMITTER: Lv K 

PROVIDER: S-EPMC12607205 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature